Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Autor: Brandt, Tracy *, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J.H., Ankala, Arunkanth, Del Gaudio, Daniela, Knight Johnson, Amy, Vincent, Lisa M., Reavey, Caitlin, Lai, Amy, Richard, Gabriele, Meck, Jeanne M.
Zdroj: In Genetics in Medicine February 2020 22(2):336-344
Databáze: ScienceDirect
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