Varaico: Literature-Extracted Genetic Variants

Gene:COPS2
Variant:p.F69C
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COPS2

NM_004236.4:p.F69C

Associated Papers

Proteome-wide model for human disease genetics.

Orenbuch R et al.

Nature Genetics, 2025

Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders.

Orenbuch R et al.

Research Square, 2024

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."