Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.E246*
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CUL3

NM_003590.5:p.E246*

Associated Papers

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.

Amar M et al.

Molecular Psychiatry, 2021

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.

Kato K et al.

Journal of Human Genetics, 2021

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

Nakashima M et al.

Journal of Human Genetics, 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

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Rate of de novo mutations and the importance of father's age to disease risk.

Kong A et al.

Nature, 2012

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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."