THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE

Authors :: Rong Mao
Emily Groopman
Raquel Fernandez
Shruthi Mohan
Amber Stafford
Heather Baudet
Meredith Weaver
Lorne Clarke
Christina Hung
Deeksha Bali
Filippo Pinto e Vairo
Lemuel Racacho
Tatiana Yuzyuk
William Craigen
Jennifer Goldstein
Source :: Molecular Genetics and Metabolism. 138:107454
Publication Year :: 2023
Publisher :: Elsevier BV, 2023.

Subjects :: Endocrinology
Endocrinology, Diabetes and Metabolism
Genetics
Molecular Biology
Biochemistry

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