Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.Q126H
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COL5A1

NM_000093.5:p.Q126H

Associated Papers

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

38310436 (PubMed )
Supplement: aim-26-346-s001.pdf

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Chen S et al.

Human Genomics, 2022

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Becerra-Muñoz VM et al.

Orphanet Journal of Rare Diseases, 2018

29357934 (PubMed )
Supplement: 13023_2017_754_MOESM1_ESM.docx

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.

Liu Z et al.

Gut Microbes, 0

33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1

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."