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Your search keyword '"Jennifer Goldstein"' showing total 8 results

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1. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

2. THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE

5. P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

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