Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.R213K
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DSG4

NM_177986.5:p.R213K

Associated Papers

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."