Varaico: Literature-Extracted Genetic Variants

Gene:LPAR6
Variant:p.L228delFs
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LPAR6

NM_001162498.3:p.L228delFs

Associated Papers

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.

Shimomura Y et al.

Journal of Dermatological Science, 2009

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

Naz G et al.

Journal of Dermatological Science, 2009

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y et al.

The Journal of Investigative 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."