Article révisé par les pairs
Titre:
  • Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Auteur:Jain, Shantanu; Trinidad, Marena; Nguyen, Thanh Binh; Jones, Kaiya; Neto, Santiago Diaz; Ge, Fang; Glagovsky, Ailin; Jones, Cameron; Moran, Giankaleb; Wang, Boqi; Rahimi, Kobra; Çalıcı, Sümeyra Zeynep; Cedillo, Luis; Berardelli, Silvia; Özden, Buse; Chen, Ken; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Rana, Sadhna; Pradhan, Swatantra; Srinivasan, Rajgopal; Sajeed, Rakshanda; Joshi, Dinesh; Faraggi, Eshel; Jernigan, Robert; Kloczkowski, Andrzej; Xu, Jierui; Song, Zigang; Özkan, Selen; Padilla, Natàlia; de la Cruz, Xavier; Acuna-Hidalgo, Rocio; Grafmüller, Andrea; Barrón, Laura T. Jiménez; Manfredi, Matteo; Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita RC; Sun, Yuanfei; Zhu, Shaowen; Shen, Yang; Pucci, Fabrizio; Rooman, Marianne; Cia, Gabriel; Raimondi, Daniele; Hermans, Pauline; Kwee, Sofia; Chen, Ella; Astore, Courtney; Kamandula, Akash; Pejaver, Vikas; Ramola, Rashika; Velyunskiy, Michelle; Zeiberg, Daniel; Mishra, Reet; Sterling, Teague; Goldstein, Jennifer L.; Lugo-Martinez, Jose; Kazi, Sufyan; Li, Sindy; Long, Kinsey; Brenner, Steven E.; Bakolitsa, Constantina; Radivojac, Predrag; Suhr, Dean; Suhr, Teryn; Clark, Wyatt T.
Informations sur la publication:Human genetics, 144, 2-3, page (295-308)
Statut de publication:Publié, 2025-03-01
Sujet CREF:Sciences bio-médicales et agricoles
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0340-6717
info:doi/10.1007/s00439-025-02731-3
info:pii/2731
info:scp/105003199601
info:pmid/40055237

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