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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., SosnayVolume:
102
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2018.04.003
Date:
June, 2018
File:
PDF, 581 KB
english, 2018