Varaico: Literature-Extracted Genetic Variants

Gene:HOXA13
Variant:p.W369*
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HOXA13

NM_000522.5:p.W369*

Associated Papers

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

Cao L et al.

Journal of Genetics, 2017

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Yokoyama E et al.

Molecular Cytogenetics, 2017

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Watson CM et al.

Plos One, 2016

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

Human HOX gene disorders.

Quinonez SC et al.

Molecular Genetics and Metabolism, 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."