Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.A1192V
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CUL7

NM_014780.5:p.A1192V

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S3

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

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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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."