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Article

Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.

American journal of medical genetics. Part A - 1 Jul 2012

Davis L K, Maltman N, Mosconi M W, Macmillan C, Schmitt L, Moore K, Francis S M, Jacob S, Sweeney J A, Cook E H

Abstract excerpt

Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J...

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Source

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Identifiers

PMID: 22678932
DOI: 10.1002/ajmg.a.35396
PMCID: PMC3707293

Genes

RBFOX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22678932-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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