Genetic & Genomic MedicineMolecular Genetics and MetabolismPeer-reviewed
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework
Emily Groopman, Shruthi Mohan, Amber Waddell…·Jennifer Goldstein
The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.
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