Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.R35R
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MFSD8

NM_001371596.2:p.R35R

Associated Papers

UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression.

Venier AC et al.

Human Molecular Genetics, 2025

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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."