Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.R46K
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INSR

NM_000208.4:p.R46K

Associated Papers

Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene.

Laugesen K et al.

Jcem Case Reports, 2024

Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.

Křížková K et al.

Plos One, 2014

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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."