Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype
Author:
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Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole
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Tübinger Autor(en):
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Published in:
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Molecular Genetics & Genomic Medicine
(2023), Bd.
11 (3),
Article e2120
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Verlagsangabe:
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Wiley
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Language:
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English
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Full text:
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http://dx.doi.org/10.1002/mgg3.2120
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ISSN:
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2324-9269
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DDC Classifikation:
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570 - Life sciences; biology 610 - Medicine and health
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Dokumentart:
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Article
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