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American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
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