Varaico: Literature-Extracted Genetic Variants

Gene:KRT71
Variant:p.F141C
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KRT71

NM_033448.3:p.F141C

Associated Papers

A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family.

Chen X et al.

The Journal of Dermatology, 2025

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.

Yu X et al.

The Journal of Investigative Dermatology, 2018

A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.

Fujimoto A et al.

The Journal of Investigative Dermatology, 2012

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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."