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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUL1

Variant:p.M450L

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CUL1

NM_003592.3:p.M450L

hg38:chr7:148786989 A>C

Associated Papers

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

Xu H et al.

Hgg Advances, 2026

41189326 (PubMed )

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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."