Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.R598Q
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ABCC8

NM_000352.6:p.R598Q

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.

Lee DH et al.

Bmj Open Diabetes Research & Care, 2021

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.

Ngoc CTB et al.

Frontiers in Endocrinology, 2021

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