Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.N12_D13insFs
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LPAR6

NM_001162498.3:p.N12_D13insFs

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

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

Nahum S et al.

Clinical and Experimental Dermatology, 2011

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.

Pasternack SM et al.

Archives of Dermatological Research, 2009

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

Azeem Z et al.

Human 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."