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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPIN1

Variant:p.Y170C

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SPIN1

NM_006717.3:p.Y170C

hg38:chr9:88468525 A>G

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."