http://rdf.ncbi.nlm.nih.gov/pubchem/reference/36969091

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publicationName Human Genomics
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bibliographicCitation Kim HH, Kim DW, Woo J, Lee K. Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders. Hum Genomics. 2024 Mar 21;18(1):28. PMID: 38509596; PMCID: PMC10956189.
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title Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
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