Search Results - Weaver, Amybeth

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    P575: Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria

    P575: Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria by Towne, Meghan, Holman, Melissa, Gallegos, Margo, Workman, Heather, Weaver, Amybeth, Zimmermann, Heather

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    RNA Studies Demonstrate that the LDLR c.2389+4A>G Intronic Variant Causes Familial Hypercholesterolemia through an RNA Splicing Impact

    RNA Studies Demonstrate that the LDLR c.2389+4A>G Intronic Variant Causes Familial Hypercholesterolemia through an RNA Splicing Impact by Zimmermann, Heather, Morise, Anthony, Castano, Jesus Ramirez, Albualkheir, Nelly, Bridges, Christina, Tsai, Ginger, Weaver, Amybeth, Karam, Rachid

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