Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.K187*
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LIPH

NM_139248.3:p.K187*

Associated Papers

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

Update of recent findings in genetic hair disorders.

Hayashi R et al.

The Journal of Dermatology, 2022

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.

Lv H et al.

The Journal of Dermatology, 2020

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."