Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.D207_D209delins
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LIPH

NM_139248.3:p.D207_D209delins

Associated Papers

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

Xie Y et al.

Frontiers in Medicine, 2025

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.

Horev L et al.

Journal of the American Academy 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."