Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.

Molecular genetics & genomic medicine
2018
https://researcherprofiles.org/profile/7232598
29441694
Maselli RA, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M