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Article

A nematode model to evaluate microdeletion phenotype expression.

G3 (Bethesda, Md.) - 7 Feb 2024

Antkowiak Katianna R, Coskun Peren, Noronha Sharon T, Tavella Davide, Massi Francesca, Ryder Sean P

Abstract excerpt

Microdeletion syndromes are genetic diseases caused by multilocus chromosomal deletions too small to be detected by karyotyping. They are typified by complex pleiotropic developmental phenotypes that depend both on the extent of the deletion and variations in genetic background. Microdeletion alleles cause a wide array of consequences involving multiple pathways. How simultaneous haploinsufficiency of numerous...

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PMID: 37956108
DOI: 10.1093/g3journal/jkad258
PMCID: PMC10849325

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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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