Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.R274*
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CIC

NM_015125.5:p.R274*

Associated Papers

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17

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_

CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas.

Gleize V et al.

Annals of Neurology, 2015

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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."