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Article

ELP2 is a novel gene implicated in neurodevelopmental disabilities.

American journal of medical genetics. Part A - 1 Jun 2015

Cohen Julie S, Srivastava Siddharth, Farwell Kelly D, Lu Hsiao-Mei, Zeng Wenqi, Lu Hong, Chao Elizabeth C, Fatemi Ali

Abstract excerpt

Elongator is a multi-subunit protein complex essential to transcription elongation, histone acetylation, and tRNA modification. The complex consists of six highly conserved protein subunits, called Elongator Proteins (ELP) 1-6. Apart from an association with intellectual disability (ID), there is limited clinical information about patients with ELP2 variants. Here we report on two brothers with severe ID, spastic...

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Source

Identifiers

PMID: 25847581
DOI: 10.1002/ajmg.a.36935

Genes

ELP2

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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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