Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.R1352C
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ABCC8

NM_000352.6:p.R1352C

Associated Papers

ABCC8 Missense Variants and Disease: Loss or Gain? This Is the Question.

Barbetti F et al.

Diabetes, 2026

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P et al.

Nature Communications, 2018

29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 4_Somatic_SNVs
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