Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.M23_F24insFs
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LPAR6

NM_001162498.3:p.M23_F24insFs

Associated Papers

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

Xie Y et al.

Frontiers in Medicine, 2025

Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).

Abbas S et al.

Iranian Journal of Basic Medical Sciences, 2014

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S et al.

Clinical and Experimental Dermatology, 2011

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.

Nahum S et al.

Clinical and Experimental Dermatology, 2011

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

Tariq M et al.

The British Journal of Dermatology, 2009

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

Shimomura Y et al.

Experimental Dermatology, 2009

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Azeem Z et al.

Human Genetics, 2008

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.

Shimomura Y et al.

Nature Genetics, 2008

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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."