Publications:

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

Genes

AlMuhaizea, Mohammad M; Dabbagh, Omar O; AlQudairy, Hanan H; AlHargan, Aljouhra A; Alotaibi, Wafa W; Sami, Ruba R; AlOtaibi, Rahaf R; Ali, Mariam Mahmoud MM; AlHindi, Hindi H; Colak, Dilek D; Kaya, Namik N

Publication Date: 2021-11-10

Variant appearance in text: RYR1: T1030C

PubMed Link: 34828389

Variant Present in the following documents:

• Main text
• genes-12-01783.pdf

View BVdb publication page