Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.H158delFs
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LPAR6

NM_001162498.3:p.H158delFs

Associated Papers

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

Xie Y et al.

Frontiers in Medicine, 2025

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Mitani T et al.

American Journal of Human Genetics, 2021

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

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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."