Publications:

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Journal Of Clinical Medicine

Barbosa-Gouveia, Sofia S; Vázquez-Mosquera, Maria Eugenia ME; González-Vioque, Emiliano E; Hermida-Ameijeiras, Álvaro Á; Sánchez-Pintos, Paula P; de Castro, Maria José MJ; León, Soraya Ramiro SR; Gil-Fournier, Belén B; Domínguez-González, Cristina C; Camacho Salas, Ana A; Negrão, Luis L; Fineza, Isabel I; Laranjeira, Francisco F; Couce, Maria Luz ML

Publication Date: 2022-05-12

Variant appearance in text: RYR1: 2860C>T

PubMed Link: 35628876

Variant Present in the following documents:

• Main text
• jcm-11-02750.pdf

View BVdb publication page

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Neurology. Genetics

Winder, Thomas L TL; Tan, Christopher A CA; Klemm, Sarah S; White, Hannah H; Westbrook, Jody M JM; Wang, James Z JZ; Entezam, Ali A; Truty, Rebecca R; Nussbaum, Robert L RL; McNally, Elizabeth M EM; Aradhya, Swaroop S

Publication Date: 2020-04

Variant appearance in text: RYR1: 2860C>T

PubMed Link: 32337338

Variant Present in the following documents:

• Main text
• NG2019011031.pdf

View BVdb publication page