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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 130448697 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=130448697 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.370 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 434 Titles: – TitleFull: Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Maselli, Ricardo A. – PersonEntity: Name: NameFull: Vázquez, Jessica – PersonEntity: Name: NameFull: Schrumpf, Leah – PersonEntity: Name: NameFull: Arredondo, Juan – PersonEntity: Name: NameFull: Lara, Marian – PersonEntity: Name: NameFull: Strober, Jonathan B. – PersonEntity: Name: NameFull: Pytel, Peter – PersonEntity: Name: NameFull: Wollmann, Robert L. – PersonEntity: Name: NameFull: Ferns, Michael IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2018 Type: published Y: 2018 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 6 – Type: issue Value: 3 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
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