Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.E317G
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HOXD13

NM_000523.4:p.E317G

Associated Papers

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

Wang H et al.

Bone Research, 2024

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Cassim A et al.

Orphanet Journal of Rare Diseases, 2022

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives.

Zaib T et al.

Genes, 2022

Genetic Overview of Syndactyly and Polydactyly.

Ahmed H et al.

Plastic and Reconstructive Surgery. Global Open, 2017

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

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Zhao X et al.

American Journal of Human Genetics, 2007

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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."