Varaico: Literature-Extracted Genetic Variants

Gene:KRT25
Variant:p.L317P
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KRT25

NM_181534.4:p.L317P

Associated Papers

Genetic Polymorphism Reveals FAT3 Gene Associations with Wool Traits in Subo Merino Sheep.

Anwar A et al.

Animals : an Open Access Journal From Mdpi, 2025

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.

Zhang X et al.

Frontiers in Genetics, 2025

40417239 (PubMed )
Supplement: DataSheet1.pdf

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.

Xie Y et al.

Frontiers in Medicine, 2025

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

Zernov NV et al.

The Journal of Investigative Dermatology, 2016

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

Ansar M et al.

Journal of Medical Genetics, 2015

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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."