Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.
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| Title: | Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. |
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| Authors: | Maselli, Ricardo A.1 ramaselli@ucdavis.edu, Vázquez, Jessica1, Schrumpf, Leah1, Arredondo, Juan1, Lara, Marian1, Strober, Jonathan B.2, Pytel, Peter3, Wollmann, Robert L.3, Ferns, Michael4 |
| Source: | Molecular Genetics & Genomic Medicine. May2018, Vol. 6 Issue 3, p434-440. 7p. |
| Database: | Academic Search Ultimate |
| ISSN: | 23249269 |
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| DOI: | 10.1002/mgg3.370 |
