Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.Q52R
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ABCC9

NM_020297.4:p.Q52R

Associated Papers

Dynamic duo: Kir6 and SUR in KATP channel structure and function.

Patton BL et al.

Channels (austin, Tex.), 2024

Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.

Martin GM et al.

Frontiers in Physiology, 2013

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER et al.

The New England Journal of Medicine, 2006

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.

Tammaro P et al.

The Journal of Physiology, 2006

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Proks P et al.

Human Molecular Genetics, 2005

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Hattersley AT et al.

Diabetes, 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."