Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.I116_Y117delFs
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LIPH

NM_139248.3:p.I116_Y117delFs

Associated Papers

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Mehmood S et al.

The Australasian Journal of Dermatology, 2015

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Pasternack SM et al.

The Journal of Investigative Dermatology, 2009

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

Shimomura Y et al.

Journal of Dermatological Science, 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."