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Article

Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

10 Jul 2019

Abstract excerpt

BACKGROUND AND PURPOSE: Next-generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders (NMDs). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield. METHODS: A retrospective study was conducted on 72 patients with NMDs who underwent exome sequencing (ES), partly followed by genotype-guided diagnostic...

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PMID: 31407473
DOI: 10.1111/ene.14033

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