Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.L59delFs
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LPAR6

NM_001162498.3:p.L59delFs

Associated Papers

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

Alwunais K et al.

Dermatology Reports, 2025

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Kurban M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

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

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

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."