Varaico: Literature-Extracted Genetic Variants

Gene:HOXA13
Variant:p.S136*
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HOXA13

NM_000522.5:p.S136*

Associated Papers

A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.

Cao L et al.

Journal of Genetics, 2017

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Imagawa E et al.

American Journal of Medical Genetics. Part A, 2014

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

Frisén L et al.

Journal of Medical Genetics, 2003

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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."