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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE2H

Variant:p.D120V

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UBE2H

NM_003344.4:p.D120V

hg38:chr7:129839275 T>A

Associated Papers

Proteome-wide model for human disease genetics.

Orenbuch R et al.

Nature Genetics, 2025

41286104 (PubMed )

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

38260496 (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."