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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIPH

Variant:p.I220fs

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LIPH

NM_139248.3:p.I220fs

hg38:chr3:185524131 TAT>N

Associated Papers

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

Xie Y et al.

Frontiers in Medicine, 2025

41426600 (PubMed )

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.

Akiyama M

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

33988877 (PubMed )

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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."