Varaico: Literature-Extracted Genetic Variants

Gene:ZSWIM2
Variant:p.F42S
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ZSWIM2

NM_182521.3:p.F42S

Associated Papers

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Ensenauer R et al.

American Journal of Human Genetics, 2004

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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."