Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework
| Autor: | Groopman, Emily, Mohan, Shruthi, Waddell, Amber, Wilke, Matheus, Fernandez, Raquel, Weaver, Meredith, Chen, Hongjie, Liu, Hongbin, Bali, Deeksha, Baudet, Heather, Clarke, Lorne, Hung, Christina, Mao, Rong, Pinto e Vairo, Filippo, Racacho, Lemuel, Yuzyuk, Tatiana, Craigen, William J., Goldstein, Jennifer |
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| Zdroj: | In Molecular Genetics and Metabolism November 2024 143(3) |
| Databáze: | ScienceDirect |
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