Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S3659F
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FLG

NM_002016.2:p.S3659F

Associated Papers

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE et al.

American Journal of Human Genetics, 2015

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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."