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[Introduction to filtering, analysis and curation of genetic variants in patients with intellectual disability].

Medicina - 1 Mar 2023

Barraza García Jimena, Cano Moratilla Cristina, González de la Vega Alberto

Abstract excerpt

Currently, Whole exome sequencing (WES) using NGS (Next-generation sequencing) technology is one of the most requested genetic studies within the approach of patients with intellectual disability with or without other anomalies. As with other procedures and clinical studies, it is convenient for prescribing physicians to have a clear understanding of the scope and limitations of the use of WES, the analysis...

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PMID: 36820475

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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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