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

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

Author: Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole
Tübinger Autor(en):
Mazzola, Pascale
Reith, Milda
Stingl, Katarina
Weisschuh, Nicole
Haack, Tobias
Published in: Molecular Genetics & Genomic Medicine (2023), Bd. 11 (3), Article e2120
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/mgg3.2120
ISSN: 2324-9269
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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