Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.K885insFs
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COL4A5

NM_033380.3:p.K885insFs

Associated Papers

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.

Hadjipanagi D et al.

Genes, 2022

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Hertz JM et al.

Human Mutation, 2001

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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."