Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.P109_E110Splc
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CSF2

NM_000758.4:p.P109_E110Splc

Associated Papers

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Mills PB et al.

Human Molecular Genetics, 2005

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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."