Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
| Autor: | Ansar, Muhammad, Ebstein, Frédéric, Özkoç, 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 |
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| Přispěvatelé: | University of Zurich |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| DOI: | 10.5167/uzh-192397 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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