Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines

Autor: Berger, Sara M., Appelbaum, Paul S., Siegel, Karolynn, Wynn, Julia, Saami, Akilan M., Brokamp, Elly, O’Connor, Bridget C., Hamid, Rizwan, Martin, Donna M., Chung, Wendy K.
Zdroj: In Genetics in Medicine September 2022 24(9):1878-1887
Databáze: ScienceDirect