Morquio syndrome type A locus-specific database: a framework for a curated database to identify and characterize pathogenic variants in the GALNS gene

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Bibliographic Details
Published inMolecular genetics and metabolism Vol. 111; no. 2; p. S92
Main Authors Ryles, April B., Du, Chaoyi, Oron, Tal, Atwood, Robert, Mooney, Sean D., Francis-Lyon, Patricia
Format Journal Article
LanguageEnglish
Published Elsevier Inc 01.02.2014
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ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2013.12.223