Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.R260*
Back to variants list

LIPH

NM_139248.3:p.R260*

Associated Papers

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.

Alwunais K et al.

Dermatology Reports, 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

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

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.

Tariq M et al.

Scientific Reports, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."