P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

Autor: DiStefano, Marina, Amberger, Joanna, Austin-Tse, Christina, Balzotti, Marie, Amin, Mutaz, Berg, Jonathan, Bocchini, Carol, Bruford, Elspeth, Alkuraya, Fowzan, Coffey, Alison, Collins, Heather, Cunningham, Fiona, Firth, Helen, Fitzpatrick, David, Einhorn, Yaron, Goldstein, Jennifer, Hamosh, Ada, Leigh, Sarah, Leong, Ivone, Martin, Christa, McDonagh, Ellen, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Ware, James, Williams, Eleanor, Wright, Caroline, Yates, Michael, Weller, Phillip, Rehm, Heidi

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement

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Spinocerebellar Ataxia Type 11

Autor: Chen Z; Department of Neurodegenerative Disease UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London, United Kingdom, Puzriakova A; Department of Neuromuscular Disease UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London, United Kingdom, Houlden H; Department of Neuromuscular Disease UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London, United Kingdom

Publikováno v: 1993.