Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.M1513I
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ABCC8

NM_000352.6:p.M1513I

Associated Papers

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Cope HL et al.

Nature Medicine, 2025

40913169 (PubMed )
Supplement: 41591_2025_3945_MOESM3_ESM.xlsx › Sheet1

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
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