Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-5
Variant:p.C133fs
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KRTAP1-5

NM_031957.2:p.C133fs

Associated Papers

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome.

Dawson PA et al.

Molecular Genetics and Metabolism Reports, 2020

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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."