Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A4RG
Variant:p.E2K
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SLC2A4RG

NM_020062.4:p.E2K

Associated Papers

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.

Yang Y et al.

Human Mutation, 2008

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Orrico A et al.

European Journal of Human Genetics : Ejhg, 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."