Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.S254L
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COL5A1

NM_000093.5:p.S254L

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.

Wang Y et al.

Jama Cardiology, 2022

Spontaneous coronary artery dissection: Role of prognostic markers and relationship with genetic analysis.

Antonutti M et al.

International Journal of Cardiology, 2021

Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.

Wang C et al.

Aging, 2021

33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Abou Hassan OK et al.

Bmc Medical Genetics, 2018

29843651 (PubMed )
Supplement: 12881_2018_608_MOESM1_ESM.pdf

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas SEM et al.

Plos One, 2018

29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

McElroy A et al.

Journal of Veterinary Internal Medicine, 0

37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."