Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.V121M
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ABCC8

NM_000352.6:p.V121M

Associated Papers

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.

Pande AR et al.

Indian Journal of Endocrinology and Metabolism, 0

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