Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G644D
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COL4A5

NM_033380.3:p.G644D

Associated Papers

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Halat-Wolska P et al.

Genes, 2025

40004525 (PubMed )
Supplement: genes-16-00196-s001.zip › genes-3423569-supplementary.xlsx › Supplementary_Table_S3

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Gillion V et al.

Kidney International Reports, 2018

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-s3.xls › NovelVar

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2015

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Morinière V et al.

Journal of the American Society of Nephrology : Jasn, 2014

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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."