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Science (New York, N.Y.)|June 29, 2002
AGTR2 mutations in X-linked mental retardationVirginie S Vervoort, Michael A Beachem, Penny S Edwards, et al.
Clinical Genetics|October 19, 2021
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizuresLavanya Jain, Lindsay M Oberman, Laura Beamer, et al.
The Journal of Molecular Diagnostics : JMD|July 20, 2024
Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic TestingBrynn Levy, Jie Liu, M Anwar Iqbal, et al.
Human Mutation|October 17, 2013
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genesYing Qiao, Kajari Mondal, Valentina Trapani, et al.
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