Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.R110*
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LIPH

NM_139248.3:p.R110*

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic

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

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Mehmood S et al.

The Australasian 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."