Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development-Reference-Cited by-同舟云学术

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

Published:2021-11-25 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Wayhelova Marketa^ORCID,Vallova Vladimira,Broz Petr,Mikulasova Aneta,Loubalova Dominika,Filkova Hana,Smetana Jan,Drabova Klara,Gaillyova Renata,Kuglik Petr

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00988-w.pdf

Reference39 articles.

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4. Bosch DE, Willard FS, Ramanujam R, Kimple AJ, Willard MD, Naqvi NI, et al. A P-loop mutation in Gα subunits prevents transition to the active state: implications for G-protein signalling in fungal pathogenesis. PLoS Pathog 2012;8:e1002553.

5. Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, et al. Proc Natl Acad Sci USA 2008;105:6457–62.

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