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Article

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.

The review of diabetic studies : RDS - 1 Jan 2000

Althari Sara, Gloyn Anna L

Abstract excerpt

The genomics revolution has raised more questions than it has provided answers. Big data from large population-scale resequencing studies are increasingly deconstructing classic notions of Mendelian disease genetics, which support a simplistic correlation between mutational severity and phenotypic outcome. The boundaries are being blurred as the body of evidence showing monogenic disease-causing alleles in...

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Identifiers

PMID: 27111119
DOI: 10.1900/RDS.2015.12.330
PMCID: PMC5275758

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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