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Article

Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.

EBioMedicine - 1 Jun 2026

Ahmed Suhel, Lewis Victoria, Russ-Silsby James, Wakeling Matthew N, Thunander Maria, Vivanco Maritza, Caswell Richard, Hattersley Andrew T, Bowman Pamela, Patel Kashyap, Flanagan Sarah E, De Franco Elisa

Abstract excerpt

BACKGROUND: Identifying novel genetic causes of diabetes in the first 6 months of life (neonatal diabetes) can highlight genes and pathways essential for pancreatic beta-cell development and function in humans. Our aim was to uncover genetic aetiologies of neonatal diabetes. METHODS: We performed genome sequencing in 38 probands diagnosed with neonatal diabetes without an identified genetic cause, and their...

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Identifiers

PMID: 42107907
DOI: 10.1016/j.ebiom.2026.106286
PMCID: PMC13191097

Genes

ACTB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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