Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.K278delFs
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HOXD13

NM_000523.4:p.K278delFs

Associated Papers

Joining the fingers: a HOXD13 Story.

Brison N et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

Dai L et al.

Plos One, 2014

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

Jamsheer A et al.

Bmc Medical Genetics, 2012

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

Kan SH et al.

American Journal of Medical Genetics. Part A, 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."