Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.Q248*
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HOXD13

NM_000523.4:p.Q248*

Associated Papers

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.

Khan IU et al.

Clinical Genetics, 2025

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.

Zhang M et al.

American Journal of Medical Genetics. Part A, 2020

A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.

Al-Qattan MM

Biomed Research International, 2020

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

Ibrahim DM et al.

American Journal of Medical Genetics. Part A, 2016

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Deng H et al.

Current Genomics, 2015

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

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

Kurban M et al.

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."