Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Y233*
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LPL

NM_000237.3:p.Y233*

Associated Papers

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.

Mizukami Y et al.

The Journal of Dermatology, 2018

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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."