Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.F82S
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MBTPS2

NM_015884.4:p.F82S

Associated Papers

A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome.

Shin JO et al.

Annals of Dermatology, 2022

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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."