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Biallelic variants in PSMB1 encoding the proteasome subunit Î26 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature by Ansar, Muhammad; Ebstein, Frédéric; Ãzkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.

Author
Ansar, Muhammad; Ebstein, Frédéric; Ãzkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E
Publisher
Oxford University Press; Oxford University Press (OUP) (ISSN 0964-6906)
Published
2020
Field
Biochemistry, Genetics and Molecular Biology (Life Sciences)

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