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2. Muda, Alice, Malerba, Laura, Giordano, Lucio, Fazzi, Elisa, Accorsi, Patrizia. 2023. A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report. In American journal of medical genetics. Part A, 191, 1953-1958. doi:10.1002/ajmg.a.63212. https://pubmed.ncbi.nlm.nih.gov/37067188/
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8. Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Jan, Mohammed M, Alharazy, Shatha, AlQahtani, Mohammad H. 2020. Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly. In Saudi journal of biological sciences, 27, 3125-3131. doi:10.1016/j.sjbs.2020.09.033. https://pubmed.ncbi.nlm.nih.gov/33100873/
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