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Article

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Journal of medical genetics - 29 Aug 2024

Geroldi Alessandro, Mammi Alessia, Gaudio Andrea, Patrone Serena, La Barbera Andrea, Origone Paola, Ponti Clarissa, Sanguineri Francesca, Massucco Sara, Marinelli Lucio, Grandis Marina, Schenone Angelo, Mandich Paola, Bellone Emilia, Gotta Fabio

Abstract excerpt

BACKGROUND: The application of massive parallel sequencing technologies in the molecular analysis of Charcot-Marie-Tooth (CMT) has enabled the rapid and cost-effective identification of numerous potentially significant variants for diagnostic purposes. The objective is to reduce the number of variants, focusing only on those with pathogenic significance. The 2015 American College of Medical Genetics and Genomics...

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Identifiers

PMID: 38871447
DOI: 10.1136/jmg-2024-110019

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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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