Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects ; volume:143 ; number:3 ; day:7 ; month:3 ; year:2024 ; pages:263-277 ; date:3.2024
Human genetics ; 143, Heft 3 (7.3.2024), 263-277, 3.2024

Creator: Oxman, Elias
Li, Huili
Wang, Hong-Yan
Zohn, Irene E.

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00439-024-02647-4

URN: urn:nbn:de:101:1-2407090937474.011432967077

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 05.11.0008, 3:38 PM CET

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Oxman, Elias
Li, Huili
Wang, Hong-Yan
Zohn, Irene E.
SpringerLink (Online service)

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Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

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Other Objects (12)

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

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Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

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