Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
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Published in Genome medicine (25.02.2021)
Published in Genome medicine (25.02.2021)
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Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation
Chou, Janet, Alazami, Anas M., Jaber, Faris, Hoyos-Bachiloglu, Rodrigo, Jones, Jennifer, Weeks, Sabrina, Alosaimi, Mohammed F., Bainter, Wayne, Cangemi, Brittney, Badran, Yousef R., Mohammed, Reem, Alroqi, Fayhan, Almutairi, Abduarahman, Al-Onazi, Noufa, AlAjaji, Sulaiman, Al-Saud, Bander, Arnaout, Rand, Elkins, Megan, Devana, Sridevi, Imperial, Juliet, Li, Betty, Drexhage, Linnea, Abdel Rahman, Anas M., Jacob, Minnie, Haddad, Hadi, Hanna-Wakim, Rima, Dbaibo, Ghassan, Massaad, Michel J., Dasouki, Majed, Mikhael, Raymond, Baz, Zeina, Geha, Raif S., Al-Mousa, Hamoud
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Published in Journal of allergy and clinical immunology (01.07.2020)
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