Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G935D
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COL4A5

NM_033380.3:p.G935D

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

Nagel M et al.

Human Mutation, 2005

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Shulman C et al.

Kidney Medicine, 0

33851121 (PubMed )
Supplement: mmc1.pdf
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