A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.
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| Title: | A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation. |
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| Authors: | Vlckova, Marketa1 (AUTHOR) marketa.vlckova@lfmotol.cuni.cz, Prchalova, Darina1 (AUTHOR), Zimmermann, Pavel2 (AUTHOR), Haberlova, Jana3 (AUTHOR), Bendova, Sarka1 (AUTHOR), Moslerova, Veronika1 (AUTHOR), Stranecky, Viktor4 (AUTHOR), Sedlacek, Zdenek1 (AUTHOR), Hancarova, Miroslava1 (AUTHOR) |
| Source: | Molecular Genetics & Genomic Medicine. Jun2023, Vol. 11 Issue 6, p1-5. 5p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 164306503 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Vlckova%2C+Marketa%22">Vlckova, Marketa</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> marketa.vlckova@lfmotol.cuni.cz</i><br /><searchLink fieldCode="AR" term="%22Prchalova%2C+Darina%22">Prchalova, Darina</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zimmermann%2C+Pavel%22">Zimmermann, Pavel</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Haberlova%2C+Jana%22">Haberlova, Jana</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bendova%2C+Sarka%22">Bendova, Sarka</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Moslerova%2C+Veronika%22">Moslerova, Veronika</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Stranecky%2C+Viktor%22">Stranecky, Viktor</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sedlacek%2C+Zdenek%22">Sedlacek, Zdenek</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hancarova%2C+Miroslava%22">Hancarova, Miroslava</searchLink><relatesTo>1</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Jun2023, Vol. 11 Issue 6, p1-5. 5p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=164306503 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.2154 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vlckova, Marketa – PersonEntity: Name: NameFull: Prchalova, Darina – PersonEntity: Name: NameFull: Zimmermann, Pavel – PersonEntity: Name: NameFull: Haberlova, Jana – PersonEntity: Name: NameFull: Bendova, Sarka – PersonEntity: Name: NameFull: Moslerova, Veronika – PersonEntity: Name: NameFull: Stranecky, Viktor – PersonEntity: Name: NameFull: Sedlacek, Zdenek – PersonEntity: Name: NameFull: Hancarova, Miroslava IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 11 – Type: issue Value: 6 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
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