Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.R47G
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CSF2

NM_000758.4:p.R47G

Associated Papers

Association of CD209 (DC-SIGN) rs735240 SNV with paucibacillary leprosy in the Brazilian population and its functional effects.

Germano GV et al.

Memorias Do Instituto Oswaldo Cruz, 2022

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

Scherer-Oppliger T et al.

Human Mutation, 1999

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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."