Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1756-994X
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
-
online resource.
- Erschienen in
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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly ; volume:13 ; number:1 ; day:25 ; month:2 ; year:2021 ; pages:1-19 ; date:12.2021
Genome medicine ; 13, Heft 1 (25.2.2021), 1-19, 12.2021
- Urheber
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Macken, William L.
Godwin, Annie
Wheway, Gabrielle
Stals, Karen
Nazlamova, Liliya
Ellard, Sian
Alfares, Ahmed
Aloraini, Taghrid
AlSubaie, Lamia
Alfadhel, Majid
Alajaji, Sulaiman
Wai, Htoo A.
Self, Jay
Douglas, Andrew G. L.
Kao, Alexander P.
Guille, Matthew
Baralle, Diana
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s13073-021-00850-w
- URN
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urn:nbn:de:101:1-2021042221392884664657
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
- 02.08.20252025, 10:52 MESZ
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Beteiligte
- Macken, William L.
- Godwin, Annie
- Wheway, Gabrielle
- Stals, Karen
- Nazlamova, Liliya
- Ellard, Sian
- Alfares, Ahmed
- Aloraini, Taghrid
- AlSubaie, Lamia
- Alfadhel, Majid
- Alajaji, Sulaiman
- Wai, Htoo A.
- Self, Jay
- Douglas, Andrew G. L.
- Kao, Alexander P.
- Guille, Matthew
- Baralle, Diana
- SpringerLink (Online service)
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