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O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I |
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Titel: |
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I |
Auteur: |
Goldstein, Jenny Waddell, Amber Aschoff, Carlos Chen-Deutsch, Xiangwen Ellinwood, Matthew Mendez, Roberto Fernandez, Raquel Bali, Deeksha Lund, Troy Pollard, Laura Steet, Richard Pinto e Vairo, Filippo Wood, Timothy Clarke, Lorne Rehder, Catherine |
Verschenen in: |
Genetics in medicine open |
Paginering: |
Jaargang 2 () nr. S1 pagina's p. |
Jaar: |
2024 |
Inhoud: |
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Uitgever: |
Published by Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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