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Collezione AOU Città della Salute di Torino

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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. in Nature communications / Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w.

2025
AOU Città della Salute di Torino

Groeneweg S; van Geest FS; Martín M; Dias M; Frazer J; Medina-Gomez C; Sterenborg RBTM; Wang H; Dolcetta-Capuzzo A; de Rooij LJ; Teumer A; Abaci A; van den Akker ELT; Ambegaonkar GP; Armour CM; Bacos I; Bakhtiani P; Barca D; Bauer AJ; van den Berg SAA; van den Berge A; Bertini E; van Beynum IM; Brunetti-Pierri N; Brunner D; Cappa M; Cappuccio G; Castellotti B; Castiglioni C; et alii...

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.

2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...