One-directional functional evidence in RASopathy variant classification: an audit of ClinGen RASopathy VCEP classifications, reproducible from public ClinVar, MaveDB, and UniProt data.
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Updated
Aug 15, 2026 - Jupyter Notebook
#
rasopathy
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Closed-world grounding layer that reduces LLM hallucination in genetic variant classification. Benchmarked on 163 RASopathy variants.
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Jul 9, 2026 - HTML
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