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Article

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.

PLoS genetics - 1 Jan 2013

Jaworek Thomas J, Richard Elodie M, Ivanova Anna A, Giese Arnaud P J, Choo Daniel I, Khan Shaheen N, Riazuddin Sheikh, Kahn Richard A, Riazuddin Saima

Abstract excerpt

Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. The affected individuals of this family exhibited pre-lingual, se...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24039609
DOI: 10.1371/journal.pgen.1003774
PMCID: PMC3764207

Genes

ELMOD3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24039609-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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