Article
Developing a scoring system for gene curation prioritization in lysosomal diseases.
Molecular genetics and metabolism - 1 Jan 2000
Vernet Machado Bressan Wilke Matheus, Goldstein Jennifer, Groopman Emily, Mohan Shruthi, Waddell Amber, Fernandez Raquel, Chen Hongjie, Bali Deeksha, Baudet Heather, Clarke Lorne, Hung Christina, Mao Rong, Yuzyuk Tatiana, Craigen William J, Pinto E Vairo Filippo
Abstract excerpt
INTRODUCTION: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially with the increasing prominence of genetic testing as a primary diagnostic method. As the list of genes associated with LD continues to expand due to the use of...
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