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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A
Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, MichaelLanguage:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.370
Date:
February, 2018
File:
PDF, 2.22 MB
english, 2018