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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects
MartinezâDelgado, Beatriz, LopezâMartin, Estrella, LaraâHerguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, RodriguezâMartin, Carlos, Damian, Alejandra, GonzaloJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.62017
Date:
December, 2020
File:
PDF, 1.13 MB
2020