Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype

Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole

dc.contributor.author	Mazzola, Pascale
dc.contributor.author	Reith, Milda
dc.contributor.author	Stingl, Katarina
dc.contributor.author	Weisschuh, Nicole
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-10-24T09:03:36Z
dc.date.available	2023-10-24T09:03:36Z
dc.date.issued	2023
dc.identifier.issn	2324-9269
dc.identifier.uri	http://hdl.handle.net/10900/146821
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/mgg3.2120	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_01846
utue.personen.roh	Priglinger, Claudia S.
utue.personen.roh	Rudolph, Guenter
utue.personen.roh	Schmid, Irene
utue.personen.roh	Mazzola, Pascale
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Reith, Milda
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Weisschuh, Nicole
dcterms.isPartOf.ZSTitelID	Molecular Genetics & Genomic Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article e2120	de_DE
dcterms.isPartOf.ZS-Volume	11 (3)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE