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Article

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Clinical genetics - 1 Dec 2024

Chouery Eliane, Mehawej Cybel, Mansour Aline, Corbani Sandra, Korban Rima, Zalloum Richard, Megarbane Andre

Abstract excerpt

All reported ABL1 gain of function and loss of function (LOF) variants, impact both isoforms 1a and 1b. Our findings suggest that LOF variants affecting solely ABL1 isoform 1b may lead to a distinct autosomal recessive new phenotype.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39155385
DOI: 10.1111/cge.14609

Genes

ABL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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