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Systematic Gene-Disease Relationship (GDR) Curation Unveils 61 Gene-Disease Associations and Highlights the Impact on Genetic Testing

Emir Zonic,Mariana Ferreira,Luba M. Pardo,Javier Martini,Maria Eugenia Rocha,Ruxandra Aanicai,Natalia Ordonez-Herrera,Deepa Saravanakumar,Ligia S. Almeida, Inês C. Fernandes,Nishtha Gulati, Sumanth Mannepalli,Amela Hercegovac,Ruslan Al-Ali,Catarina Pereira,Omid Paknia, Uros Hladnik,Peter Bauer,Jorge Pinto Basto,Aida M. Bertoli-Avella

Genetics in Medicine Open（2023）

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关键词
Gene classification,Gene curation,Gene-disease association,Gene-disease relationship,Gene-validity
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