Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.A61_A68ins2
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HOXD13

NM_000523.4:p.A61_A68ins2

Associated Papers

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

Khan IU et al.

Clinical Genetics, 2025

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

Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract.

Chen X et al.

Frontiers in Genetics, 2023

Deciphering the mutational signature of congenital limb malformations.

Sun L et al.

Molecular Therapy. Nucleic Acids, 2021

[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].

Zhao XL et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

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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."