Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.L277P
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LPAR6

NM_001162498.3:p.L277P

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

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."