Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.S53N
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CUL3

NM_003590.5:p.S53N

Associated Papers

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

Asmar AJ et al.

Nature Communications, 2023

37495603 (PubMed )
Supplement: 41467_2023_40223_MOESM1_ESM.pdf

A novel splice site CUL3 variant in a patient with neurodevelopmental delay.

Vincent KM et al.

Brain & Development, 2023

Current trends of high-risk gene Cul3 in neurodevelopmental disorders.

Lin P et al.

Frontiers in Psychiatry, 2023

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

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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."