Publications:

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications

Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E

Publication Date: 2022-04-15

Variant appearance in text: RYR1: 4949T>C; Leu1650Pro

PubMed Link: 35428369

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1357.pdf

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Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Frontiers In Oncology

Gao, Jian J; Xi, Lei L; Yu, Rentao R; Xu, Huailong H; Wu, Min M; Huang, Hong H

Publication Date: 2021

Variant appearance in text: RYR1: 4949T>C

PubMed Link: 33996539

Variant Present in the following documents:

• DataSheet_8.xlsx, sheet 3
• DataSheet_8.xlsx, sheet 4

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