Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.T509fs
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CUL3

NM_003590.5:p.T509fs

Associated Papers

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

van der Laan L et al.

Hgg Advances, 2025

39501558 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Blackburn PR et al.

Annals of Neurology, 2024

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

Blackburn PR et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."