Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1755-8794
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing ; volume:15 ; number:1 ; day:23 ; month:3 ; year:2022 ; pages:1-8 ; date:12.2022
BMC medical genomics ; 15, Heft 1 (23.3.2022), 1-8, 12.2022

Creator
Yang, Qi
Qin, Zailong
Zhang, Qinle
Yi, Shang
Yi, Sheng
Luo, Jingsi
Contributor
SpringerLink (Online service)

DOI
10.1186/s12920-022-01217-9
URN
urn:nbn:de:101:1-2022061422061501752958
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:22 AM CEST

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Associated

  • Yang, Qi
  • Qin, Zailong
  • Zhang, Qinle
  • Yi, Shang
  • Yi, Sheng
  • Luo, Jingsi
  • SpringerLink (Online service)

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