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Assessment of Genes Involved in Lysosomal Diseases Using the Clingen Clinical Validity Framework

Emily Groopman,Shruthi Mohan,Amber Waddell,Matheus Wilke,Raquel Fernandez,Meredith Weaver, Hongjie Chen, Hongbin Liu,Deeksha Bali,Heather Baudet,Lorne Clarke,Christina Hung,Rong Mao,Filippo Pinto e Vairo,Lemuel Racacho,Tatiana Yuzyuk,William J. Craigen,Jennifer Goldstein

MOLECULAR GENETICS AND METABOLISM（2024）

Cited 0|Views18

Key words

ClinGen,Gene curation,Clinical validity,Lysosomal disease

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