Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.T313R
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HOXD13

NM_000523.4:p.T313R

Associated Papers

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

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

Wang H et al.

Bone Research, 2024

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

Zaib T et al.

Genes, 2022

Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.

Patel R et al.

Journal of Human Genetics, 2022

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

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