Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.D229fs
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LIPH

NM_139248.3:p.D229fs

Associated Papers

Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients.

Cui C et al.

Clinical, Cosmetic and Investigational Dermatology, 2025

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

Xie Y et al.

Frontiers in Medicine, 2025

Update of recent findings in genetic hair disorders.

Hayashi R et al.

The Journal of Dermatology, 2022

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

Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.

Ito T et al.

The Journal of Dermatology, 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."