Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
- 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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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features ; volume:10 ; number:1 ; day:7 ; month:8 ; year:2023 ; pages:1-3 ; date:12.2023
Human genome variation ; 10, Heft 1 (7.8.2023), 1-3, 12.2023
- Urheber
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Shimojima Yamamoto, Keiko
Yoshimura, Ayumi
Yamamoto, Toshiyuki
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1038/s41439-023-00250-z
- URN
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urn:nbn:de:101:1-2024032510333142276971
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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16.08.2022, 10:47 MESZ
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Beteiligte
- Shimojima Yamamoto, Keiko
- Yoshimura, Ayumi
- Yamamoto, Toshiyuki
- SpringerLink (Online service)
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