Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.P25L
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POFUT1

NM_015352.2:p.P25L

Associated Papers

Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.

Reisenauer AK et al.

The British Journal of Dermatology, 2014

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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."