Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.I135_Q137insFs
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LIPH

NM_139248.3:p.I135_Q137insFs

Associated Papers

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 LPAR6 causes autosomal recessive hypotrichosis of the scalp.

Nahum S et al.

Clinical and Experimental Dermatology, 2011

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.

Shinkuma S et al.

Human Mutation, 2010

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Pasternack SM et al.

The Journal of Investigative Dermatology, 2009

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.

Shimomura Y et al.

Journal of Dermatological Science, 2009

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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."