Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R306W
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HOXD13

NM_000523.4:p.R306W

Associated Papers

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

Kock KH et al.

Nature Communications, 2024

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

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

Survey of variation in human transcription factors reveals prevalent DNA binding changes.

Barrera LA et al.

Science (new York, N.y.), 2016

Human HOX gene disorders.

Quinonez SC et al.

Molecular Genetics and Metabolism, 2014

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."