Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.P141S
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CSF2

NM_000758.4:p.P141S

Associated Papers

1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.

Gropman AL et al.

Molecular Genetics and Metabolism, 2008

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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."