Associated Papers
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B et al.
American Journal of Medical Genetics. Part A, 2021
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G et al.
European Journal of Human Genetics : Ejhg, 2015
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