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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A5

Variant:p.P949delFs

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COL4A5

NM_033380.3:p.P949delFs

hg38:chrX:108622752 TC>T

Associated Papers

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

King K et al.

Human Mutation, 2006

16941480 (PubMed )

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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."