Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP31
Variant:p.T727I
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ARHGAP31

NM_020754.4:p.T727I

Associated Papers

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

Southgate L et al.

American Journal of Human Genetics, 2011

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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."