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Karbassi, Izabela, PhD, FACMG

Director of Science Variant IQ
Quest Diagnostics
Marlborough, MA

Presentation: Harnessing Advances for Improving Exome

Presentation: Standardized DNA Variant Scoring System for Pathogenicity Assessments: Application in a Diagnostic Lab Setting

Publication: Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

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