학술논문
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
Document Type
Abstract
Author
DiStefano, Marina; Alkuraya, Fowzan; Amberger, Joanna; Austin-Tse, Christina; Austine, Ola; Balzotti, Marie; Berg, Jonathan; Bruford, Elspeth; Byrne, Alicia; Cibrian-Uhalte, Elena; Coffey, Alison; Firth, Helen; Hamosh, Ada; Hunt, Sarah; Klein, Teri; Kurtz, Catherine; Leigh, Sarah; Leong, Ivone; Lucano, Caterina; Maddirevula, Sateesh; O'Neill, Audrey; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Taylor, Julie; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Ware, James; Wayburn, Bess; Weller, Phillip; Rehm, Heidi
Source
In Genetics in Medicine Open 2024 2 Supplement 1
Subject
Language
ISSN
2949-7744