Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.S1639L
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COL4A2

NM_001846.4:p.S1639L

Associated Papers

Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.

Tábuas-Pereira M et al.

Scientific Reports, 2025

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.

Adams JN et al.

Cardiovascular Diabetology, 2014

24725463 (PubMed )
Supplement: 1475-2840-13-77-S1.xls › Sheet1
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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."