PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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1 Online-Ressource.
- Sprache
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Englisch
- Erschienen in
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PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing ; volume:24 ; number:1 ; day:10 ; month:10 ; year:2023 ; pages:1-14 ; date:12.2023
BMC genomics ; 24, Heft 1 (10.10.2023), 1-14, 12.2023
- Urheber
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Kurosawa, Ryo
Iida, Kei
Ajiro, Masahiko
Awaya, Tomonari
Yamada, Mamiko
Kosaki, Kenjiro
Hagiwara, Masatoshi
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1186/s12864-023-09645-2
- URN
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urn:nbn:de:101:1-2024020809021637886494
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:35 MESZ
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Beteiligte
- Kurosawa, Ryo
- Iida, Kei
- Ajiro, Masahiko
- Awaya, Tomonari
- Yamada, Mamiko
- Kosaki, Kenjiro
- Hagiwara, Masatoshi
- SpringerLink (Online service)
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An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome
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Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation
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