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Human Mutation|October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossAndrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossMayher J Patel, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
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