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Article

Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast.

Epigenetics - 1 Dec 2022

Pablo-Kaiser Alex, Tucker McKenzie G, Turner Grace A, Dilday Elijah G, Olmstead Avery G, Tackett Caroline L, Duina Andrea A

Abstract excerpt

Recent studies have unveiled an association between an L61R substitution within the human histone H3.3 protein and the presentation of neurodevelopmental disorders in two patients. In both cases, the mutation responsible for this substitution is encoded by one allele of the H3F3A gene and, if this mutation is indeed responsible for the disease phenotypes, it must act in a dominant fashion since the genomes of...

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Identifiers

PMID: 36073733
DOI: 10.1080/15592294.2022.2121073
PMCID: PMC9665134

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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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