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Article

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing.

Endocrine - 1 Sept 2021

Płoszaj Tomasz, Antosik Karolina, Jakiel Paulina, Zmysłowska Agnieszka, Borowiec Maciej

Abstract excerpt

AIMS: Maturity-onset diabetes of the young (MODY) is one of the rare monogenic forms of diabetes. To date, about 12 genes in the scientific literature are closely related to the occurrence of the disease phenotype. However, there is still a high prevalence of undiagnosed cases of so-called MODY-X whose genetic background is still unknown. METHODS: We performed tNGS for 523 patients with suspected MODY. Next 357...

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Identifiers

PMID: 34019234
DOI: 10.1007/s12020-021-02753-7
PMCID: PMC8325655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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