Pediheart Podcast # 71: CPVT and The "VUS" - Rescuing Missense Variants From "Genetic Purgatory"

Pediheart Podcast # 71: CPVT and The "VUS" - Rescuing Missense Variants From "Genetic Purgatory"

0 0 3 mesi fa
In this special episode # 71 co-presented with the SADS Foundation (SADS.ORG) we speak with the president of the foundation, Professor Michael Ackerman of The Mayo Clinic about a recent work he co-authored on a novel approach to assessing patients with possible CPVT. How should the phenotype help to inform genotype results? Can a novel CPVT scorecard help to improve our understanding of genetic test results? How are genes determined to be 'benign', 'likely disease causing' ... Maggiori informazioni

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