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Article

A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.

Gene - 25 May 2014

Silva Isabela M W, Rosenfeld Jill, Antoniuk Sergio A, Raskin Salmo, Sotomaior Vanessa S

Abstract excerpt

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1). All previous cases repo...

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Source

Identifiers

PMID: 24613754
DOI: 10.1016/j.gene.2014.02.058

Genes

ERC1
CCDC77
IQSEC3
NINJ2
RAD52
WNK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24613754-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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