Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

John R. Giudicessi, Krystien V.V. Lieve, Ram K. Rohatgi, Faruk Koca, David J. Tester, Christian van der Werf, J. Martijn Bos, Arthur A.M. Wilde, Michael J. Ackerman

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43 Scopus citations

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Biochemistry, Genetics and Molecular Biology