Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.P23_S24insFs
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LIPH

NM_139248.3:p.P23_S24insFs

Associated Papers

Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).

Abbas S et al.

Iranian Journal of Basic Medical Sciences, 2014

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Kurban M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

Tariq M et al.

The British Journal of Dermatology, 2009

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

Shimomura Y et al.

Experimental 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."