Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.G296V
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LIPH

NM_139248.3:p.G296V

Associated Papers

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

Xie Y et al.

Frontiers in Medicine, 2025

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.

Lv H et al.

The Journal of Dermatology, 2020

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.

Asano N et al.

The 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."