Publications:

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

Biomed Research International

Zullo, Alberto A; Perrotta, Giuseppa G; D'Angelo, Rossana R; Ruggiero, Lucia L; Gravino, Elvira E; Del Vecchio, Luigi L; Santoro, Lucio L; Salvatore, Francesco F; Carsana, Antonella A

Publication Date: 2019

Variant appearance in text: RYR1: 14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT

PubMed Link: 31165076

Variant Present in the following documents:

• Main text
• BMRI2019-7638946.pdf

View BVdb publication page