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Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.

Mutation research - 1 Nov 2015

Morgan Anna, Gandin Ilaria, Belcaro Chiara, Palumbo Pietro, Palumbo Orazio, Biamino Elisa, Dal Col Valentina, Laurini Erik, Pricl Sabrina, Bosco Paolo, Carella Massimo, Ferrero Giovanni Battista, Romano Corrado, d'Adamo Adamo Pio, Faletra Flavio, Vozzi Diego

Abstract excerpt

The technological improvements over the last years made considerable progresses in the knowledge of the etiology of intellectual Disability (ID). However, at present very little is known about the genetic heterogeneity underlying the non-syndromic form of ID (NS-ID). To investigate the genetic basis of NS-ID we analyzed 43 trios and 22 isolated NS-ID patients using a targeted sequencing (TS) approach. 71 NS-ID...

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PMID: 26411299
DOI: 10.1016/j.mrfmmm.2015.09.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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