Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.K16M
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LPAR6

NM_001162498.3:p.K16M

Associated Papers

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.

Zhang X et al.

Frontiers in Genetics, 2025

40417239 (PubMed )
Supplement: DataSheet1.pdf

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

Xie Y et al.

Frontiers in Medicine, 2025

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.

Khan GM et al.

International Journal of Dermatology, 2019

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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."