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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.
Naseer MI, Abdulkareem AA, Jan MM, Chaudhary AG, Alharazy S, AlQahtani MH. Naseer MI, et al. Among authors: alharazy s. Saudi J Biol Sci. 2020 Nov;27(11):3125-3131. doi: 10.1016/j.sjbs.2020.09.033. Epub 2020 Sep 23. Saudi J Biol Sci. 2020. PMID: 33100873 Free PMC article.