Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.N453fs
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CUL3

NM_003590.5:p.N453fs

Associated Papers

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

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F et al.

Frontiers in Genetics, 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."