Varaico: Literature-Extracted Genetic Variants

Gene:SLCO6A1
Variant:p.G264S
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SLCO6A1

NM_173488.5:p.G264S

Associated Papers

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

Negahdar M et al.

Biochimica Et Biophysica Acta, 2012

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV et al.

Diabetes, 2006

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR et al.

Diabetes, 2003

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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."