Varaico: Literature-Extracted Genetic Variants

Gene:KRT25
Variant:p.L248I
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KRT25

NM_181534.4:p.L248I

Associated Papers

Molecular Basis of Hereditary Hair Diseases.

Shimomura Y

The Keio Journal of Medicine, 2025

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.

Mizukami Y et al.

The Journal of Dermatology, 2018

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan.

Takeichi T et al.

The British Journal of 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."