Biallelic Loss of Molecular Chaperone Molecule AIP Results in a Novel Severe Multisystem Disease Defined by Defective Proteostasis
Marta Korbonits,Xian Wang,Sayka Barry, Chung Lim,Oniz Suleyman, Stefano De-Tito, Nazia Begum,Maria Lillina Vignola,Charlotte Hall,Laura Perna,Paul Chapple, Sian Henson,Valle Morales,Katiuscia Bianchi, Vidar Orn Edvardsson,, Viktoria Eir Kristinsdottir,Anne Debeer,Yoeri Sleyp,Rena Zinchenko,Glenn Anderson,Michael Duchen,Kritarth Singh,Chih-Yao Chung,Yu Yuan,Sandip Patel,Ezra Aksoy,Artem O Borovikov,Hans Tomas Bjornsson,Hilde Van Esch,Gabor Czibik,Sharon Tooze,Caroline Helen Brennan,Oliver Haworth biorxiv(2024)
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