05162023.litvar2.export.tsv

# ===========================================================================
#
#                            PUBLIC DOMAIN NOTICE
#               National Center for Biotechnology Information
#
#  This software/database is a "United States Government Work" under the
#  terms of the United States Copyright Act.  It was written as part of
#  the author's official duties as a United States Government employee and
#  thus cannot be copyrighted.  This software/database is freely available
#  to the public for use. The National Library of Medicine and the U.S.
#  Government have not placed any restriction on its use or reproduction.
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#  Although all reasonable efforts have been taken to ensure the accuracy
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#  Government do not and cannot warrant the performance or results that
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#  Government disclaim all warranties, express or implied, including
#  warranties of performance, merchantability or fitness for any particular
#  purpose.
#
#  Please cite the authors in any work or product based on this material :
#
#  1. Allot A, Peng Y, Wei CH, Lee K, Phan L, Lu Z.
#  LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC.
#  Nucleic Acids Res. 2018;46(W1):W530–W536.
#
#  2. Wei CH, Phan L, Feltz J, Maiti R, Hefferon T, Lu Z.
#  tmVar 2.0: integrating genomic variant information from literature with dbSNP
#  and ClinVar for precision medicine. Bioinformatics. 2018;34(1):80–87.
#
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# pmid	title	journal
30446716	Inherited genetic predispositions in F13A1 and F13B genes predict abdominal adhesion formation: identification of gender prognostic indicators	Sci Rep
33317138	Relation of alpha2-Antiplasmin Genotype and Genetic Determinants of Fibrinogen Synthesis and Fibrin Clot Formation with Vascular Endothelial Growth Factor Level in Axial Spondyloarthritis	Int J Mol Sci
25569091	Factor XIII B Subunit Polymorphisms and the Risk of Coronary Artery Disease	Int J Mol Sci
25384012	Common FXIII and Fibrinogen Polymorphisms in Abdominal Aortic Aneurysms	PLoS One
29334895	Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data	BMC Genomics
18541031	The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration	BMC Med Genet
34187873	Predictive value of C-reactive protein for radiographic spinal progression in axial spondyloarthritis in dependence on genetic determinants of fibrin clot formation and fibrinolysis	RMD Open
29769590	Low factor XIII levels after intravenous thrombolysis predict short-term mortality in ischemic stroke patients	Sci Rep
37059930	Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.	Int J Hematol
35873600	Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).	Front Allergy
15046636	A SNP-centric database for the investigation of the human genome	BMC Bioinformatics
34234378	Decreased clot burden is associated with factor XIII Val34Leu polymorphism and better functional outcomes in acute ischemic stroke patients treated with intravenous thrombolysis	PLoS One
23582991	Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration.	Ophthalmology
36439023	Editorial: C1 inhibitor deficiency and angioedema	Front Allergy
21273692	Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City	J Genet
18654799	Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease	Hum Genet
21592109	Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX	Ann Hum Genet
21754915	Capitalizing on Admixture in Genome-Wide Association Studies: A Two-Stage Testing Procedure and Application to Height in African-Americans	Front Genet
31340840	Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement	Orphanet J Rare Dis
34506591	Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis	PLoS One
19961953	The Pivotal Role of the Complement System in Aging and Age-related Macular Degeneration: Hypothesis Re-visited	Prog Retin Eye Res
22812491	Development and characterization of a novel human Waldenstrom Macroglobulinemia cell line (RPCI-WM1; Roswell Park Cancer Institute-Waldenstrom Macroglobulinemia 1)	Leuk Lymphoma
34447779	Certain Associations Between Iron Biomarkers and Total and gamma' Fibrinogen and Plasma Clot Properties Are Mediated by Fibrinogen Genotypes	Front Nutr
18622144	Prothrombotic gene variation in patients with large and small vessel disease.	Neuroepidemiology
21986109	Prothrombotic gene variants and mortality after cerebral ischemia of arterial origin.	Neuroepidemiology
21976407	Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer	Mol Carcinog
29700787	Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration	Mol Diagn Ther
24219164	Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines	Cancer Sci
32637948	Genetic architecture of host proteins interacting with SARS-CoV-2	bioRxiv
29685792	Genomic Response to Vitamin D Supplementation in the Setting of a Randomized, Placebo-Controlled Trial	EBioMedicine
25496518	Whole exome sequencing of a single osteosarcoma case:integrative analysis with whole transcriptome RNA-seq data	Hum Genomics
31597922	Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines	Sci Rep
27251275	Proteogenomics connects somatic mutations to signaling in breast cancer	Nature
18043751	Admixture Mapping Provides Evidence of Association of the VNN1 Gene with Hypertension	PLoS One
28240269	Connecting genetic risk to disease end points through the human blood plasma proteome	Nat Commun
25887915	Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan	BMC Genomics
21980494	Genetics of Venous Thrombosis: Insights from a New Genome Wide Association Study	PLoS One
26549847	Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells	Stem Cell Reports
29974678	A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing	Mol Genet Genomic Med
23940728	AMD-Associated Genes Encoding Stress-Activated MAPK Pathway Constituents Are Identified by Interval-Based Enrichment Analysis	PLoS One
26808113	High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry	Nat Genet
24479488	Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer	BMC Med Genomics
20144966	African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans	Hum Mol Genet
28569743	Sources of discordance among germ-line variant classifications in ClinVar	Genet Med
30814510	Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases	Cell Death Dis
26659599	Reproducible Analysis of Post-Translational Modifications in Proteomes:Application to Human Mutations	PLoS One
29510755	Whole exome sequencing in three families segregating a pediatric case of sarcoidosis	BMC Med Genomics
25333361	Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis	PLoS One
29079728	PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies	Nat Commun
32758128	Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data	BMC Genomics
25668207	Genetic Investigation of Bisphosphonate-Related Osteonecrosis of Jaw (BRONJ) via Whole Exome Sequencing and Bioinformatics	PLoS One
32457125	In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma	J Immunother Cancer
30389958	X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family	Sci Rep
30894629	A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma	Sci Rep
30937429	An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar	Database (Oxford)
32046637	Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy	BMC Cardiovasc Disord
31358043	A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases	Genome Med
23151582	Analyses of pig genomes provide insight into porcine demography and evolution	Nature
18704161	Genetic Variation in an Individual Human Exome	PLoS Genet
25101798	High-density Genotyping of Immune Loci in Kawasaki Disease and IVIG Treatment Response in European-American Case-parent Trio Study	Genes Immun
20861866	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration	Genes Immun
30958262	In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta	Elife
25058410	Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers	PLoS Genet
32697988	Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit	Cell Rep
27512948	Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model	J Pathol
24367280	Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation	PLoS Genet
26826707	The Effects of Sequence Variation on Genome-wide NRF2 Binding:New Target Genes and Regulatory SNPs	Nucleic Acids Res
18518984	Genome-wide survey of allele-specific splicing in humans	BMC Genomics