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A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Langeâlike presentation
Gonzalez Garcia, Aixa, Malone, Julia, Li, HongVolume:
6
Journal:
Molecular Case Studies
DOI:
10.1101/mcs.a005322
Date:
June, 2020
File:
PDF, 1.09 MB
2020