De novo small deletion affecting transcription start site...

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American Journal of Medical Genetics Part A 2020 / 12

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects

Martinez‐Delgado, Beatriz, Lopez‐Martin, Estrella, Lara‐Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez‐Martin, Carlos, Damian, Alejandra, Gonzalo
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.62017
Date:
December, 2020
File:
PDF, 1.13 MB
2020
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