Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.D287H
Back to variants list

LPAR6

NM_001162498.3:p.D287H

Associated Papers

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

Xie Y et al.

Frontiers in Medicine, 2025

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

Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene.

Piquer-García J et al.

International Journal of Dermatology, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."