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Article

Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jan 2023

Mührer Julia, Lang-Muritano Mariarosaria, Lehmann Roger, Blouin Jean-Louis, Schwitzgebel Valerie M

Abstract excerpt

OBJECTIVES: We aimed to identify the origin of atypical diabetes in a family with four generations of diabetes from South Asia. The family members showed different clinical phenotypes. Members of generation one to three were presumed to have type 2 diabetes and generation four to have type 1 diabetes. CASE PRESENTATION: We performed a genetic analysis of the family using targeted high throughput sequencing....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36222545
DOI: 10.1515/jpem-2022-0356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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