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DiStefano, Marina T.

https://orcid.org/0000-0002-8218-5111

A5021940035 | I136199984

Mayo Clinic

Precision Health Program Geisinger Danville Pennsylvania USA

Citations 2

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Human Mutation | October 25, 2021 | Volume: 43 | Issue: 8 | Pages: 1031-1040

10.1002/humu.24291 | PMID 34694049

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Human Mutation | October 12, 2018 | Volume: 39 | Issue: 11 | Pages: 1593-1613

10.1002/humu.23630 | PMID 30311386