Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases ; volume:17 ; number:1 ; day:12 ; month:8 ; year:2024 ; pages:1-6 ; date:12.2024
BMC medical genomics ; 17, Heft 1 (12.8.2024), 1-6, 12.2024

Creator: Muntadas, Javier A.
Hyland, Martin R.
Martínez, Maria Del Rosario Ortolá
Young, Jaime N.
Chong, Jessica X.
Bamshad, Michael J.
Maselli, Ricardo A.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-024-01977-6

URN: urn:nbn:de:101:1-2410310810183.270709170109

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:22 AM CEST

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Muntadas, Javier A.
Hyland, Martin R.
Martínez, Maria Del Rosario Ortolá
Young, Jaime N.
Chong, Jessica X.
Bamshad, Michael J.
Maselli, Ricardo A.
SpringerLink (Online service)

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Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

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