Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R306Q
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HOXD13

NM_000523.4:p.R306Q

Associated Papers

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.

Gottschalk A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.

Husile H et al.

Bmc Medical Genomics, 2022

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

Deciphering the mutational signature of congenital limb malformations.

Sun L et al.

Molecular Therapy. Nucleic Acids, 2021

Genetic Overview of Syndactyly and Polydactyly.

Ahmed H et al.

Plastic and Reconstructive Surgery. Global Open, 2017

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Deng H et al.

Molecular Medicine Reports, 2017

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Deng H et al.

Current Genomics, 2015

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

Dai L et al.

Plos One, 2014

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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."