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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Shantanu Jain; Marena Trinidad; Thanh Binh Nguyen; Kaiya Jones; Santiago Diaz Neto; Fang Ge; Ailin Glagovsky; Cameron Jones; Giankaleb Moran; Boqi Wang; Kobra Rahimi; Sümeyra Zeynep Çalıcı; Luis R. Cedillo; Silvia Berardelli; Buse Özden; Ken Chen; Panagiotis Katsonis; Amanda Williams; Olivier Lichtarge; Sadhna Rana; Swatantra Pradhan; Rajgopal Srinivasan; Rakshanda Sajeed; Dinesh Joshi; Eshel Faraggi; Robert Jernigan; Andrzej Kloczkowski; Jierui Xu; Zigang Song; Selen Özkan; Natàlia Padilla; Xavier de la Cruz; Rocio Acuna-Hidalgo; Andrea Grafmüller; Laura T. Jiménez Barrón; Matteo Manfredi; Castrense Savojardo; Giulia Babbi; Pier Luigi Martelli; Rita Casadio; Yuanfei Sun; Shaowen Zhu; Yang Shen; Fabrizio Pucci; Marianne Rooman; Gabriel Cia; Daniele Raimondi; Pauline Hermans; Sofia Kwee; Ella Chen; Courtney Astore; Akash Kamandula; Vikas Pejaver; Rashika Ramola; Michelle Velyunskiy; Daniel Zeiberg; Reet Mishra; Teague Sterling; Jennifer L. Goldstein; Jose Lugo-Martinez; Sufyan Kazi; Sindy Li; Kinsey Long; Steven E. Brenner; Constantina Bakolitsa; Predrag Radivojac; Dean Suhr; Teryn Suhr; Wyatt T. Clark
Human Genetics · Vol. 144, Issue 2-3 · pp. 295-308 · 2025

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2025-03-01
Publication Year2025
Volume144
Issue2-3
Pages295-308
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-025-02731-3

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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