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Article

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

Archives of Iranian medicine - 1 Oct 2015

Jazayeri Roshanak, Hu Hao, Fattahi Zohreh, Musante Luciana, Abedini Seyedeh Sedigheh, Hosseini Masoumeh, Wienker Thomas F, Ropers Hans Hilger, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a neuro-developmental disorder which causes considerable socio-economic problems. Some ID individuals are also affected by ataxia, and the condition includes different mutations affecting several genes. METHODS: We used whole exome sequencing (WES) in combination with homozygosity mapping (HM) to identify the genetic defects in five consanguineous families among our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26443249
DOI: 0151810/AIM.007

Genes

RIPPLY1
MRPL10
SNX14
SURF1

Provenance

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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