Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.N248Y
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LPAR6

NM_001162498.3:p.N248Y

Associated Papers

Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.

Yanagida K et al.

Human Molecular Genetics, 2023

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.

Raza SI et al.

Plos One, 2014

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

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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."