Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G400E
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COL4A5

NM_033380.3:p.G400E

Associated Papers

Adverse effects of Alport syndrome-related Gly missense mutations on collagen type IV: Insights from molecular simulations and experiments.

Yeo J et al.

Biomaterials, 2020

The clinical spectrum of type IV collagen mutations.

Lemmink HH et al.

Human Mutation, 1997

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.

Boye E et al.

Human Mutation, 1995

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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."