Varaico: Literature-Extracted Genetic Variants

Gene:HOXC13
Variant:p.Q271R
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HOXC13

NM_017410.3:p.Q271R

Associated Papers

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

Clowes V et al.

Human Mutation, 2024

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

Li X et al.

Pediatric Dermatology, 2017

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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."