Publications:

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

Bmc Research Notes

Cuperman, Thais T; Fernandes, Stephanie A SA; Lourenço, Naila C V NC; Yamamoto, Lydia U LU; Silva, Helga C A HC; Pavanello, Rita C M RC; Yamamoto, Guilherme L GL; Zatz, Mayana M; Oliveira, Acary S B AS; Vainzof, Mariz M

Publication Date: 2014-08-01

Variant appearance in text: RYR1: S556S

PubMed Link: 25084811

Variant Present in the following documents:

• Main text
• 1756-0500-7-487.pdf

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