A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

doi:10.3390/ijms232314567

Article

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

International journal of molecular sciences - 23 Nov 2022

Marinella Gemma, Astrea Guja, Buchignani Bianca, Cassandrini Denise, Doccini Stefano, Filosto Massimiliano, Galatolo Daniele, Gallone Salvatore, Giannini Fabio, Lopergolo Diego, Maioli Maria Antonietta, Magri Francesca, Malandrini Alessandro, Mandich Paola, Mari Francesco, Massa Roberto, Mata Sabrina, Melani Federico, Moggio Maurizio, Mongini Tiziana E, Pasquariello Rosa, Pegoraro Elena, Ricci Federica, Ricci Giulia, Rodolico Carmelo, Rubegni Anna, Siciliano Gabriele, Sperti Martina, Ticci Chiara, Tonin Paola, Santorelli Filippo M, Battini Roberta

Abstract excerpt

OBJECTIVE: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenicity of those variants. METHODS: In the past five years, we have collected clinical and molecular information on 512 patients with neuromuscular symptoms referred to...

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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

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