Varaico: Literature-Extracted Genetic Variants

Gene:HOXC13
Variant:p.S135*
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HOXC13

NM_017410.3:p.S135*

Associated Papers

Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Clowes V et al.

Human Mutation, 2024

The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits.

Deng J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.

Mehmood S et al.

Clinical and Experimental Dermatology, 2017

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Khan AK et al.

Bmc Medical Genetics, 2017

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.

Li X et al.

Pediatric Dermatology, 2017

Human HOX gene disorders.

Quinonez SC et al.

Molecular Genetics and Metabolism, 2014

Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families.

Ali RH et al.

The British Journal of Dermatology, 2013

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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."