Varaico: Literature-Extracted Genetic Variants

Gene:CDC42BPB
Variant:p.R764*
Back to variants list

CDC42BPB

NM_006035.4:p.R764*

Associated Papers

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Chilton I et al.

American Journal of Medical Genetics. Part A, 2020

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM2_ESM.xls › Supp._Data_1

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Luhrs K et al.

Autism Research and Treatment, 2017

29250444 (PubMed )
Supplement: 9371964.f1.xlsx › SI_Table3
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."