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P570: Generating a framework for curating mechanism of dise..:
DiStefano, Marina
;
Alkuraya, Fowzan
;
Amberger, Joanna
...
Genetics in Medicine Open. 2 (2024) - p. 101476 , 2024
Link:
https://doi.org/10.1016/j.gimo.2024.101476
RT Journal T1
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2024.101476&Exemplar=1&LAN=DE A1 DiStefano, Marina A1 Alkuraya, Fowzan A1 Amberger, Joanna A1 Austin-Tse, Christina A1 Austine, Ola A1 Balzotti, Marie A1 Berg, Jonathan A1 Bruford, Elspeth A1 Byrne, Alicia A1 Cibrian-Uhalte, Elena A1 Coffey, Alison A1 Firth, Helen A1 Hamosh, Ada A1 Hunt, Sarah A1 Klein, Teri A1 Kurtz, Catherine A1 Leigh, Sarah A1 Leong, Ivone A1 Lucano, Caterina A1 Maddirevula, Sateesh A1 O'Neill, Audrey A1 Puzriakova, Arina A1 Rath, Ana A1 Roberts, Angharad A1 Radtke, Kelly A1 Ramos, Erin A1 Riggs, Erin A1 Rodwell, Charlotte A1 Taylor, Julie A1 Sangkuhl, Katrin PB Elsevier BV YR 2024 SN 2949-7744 JF Genetics in Medicine Open VO 2 SP 101476 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2024.101476 DO https://doi.org/10.1016/j.gimo.2024.101476 SF ELIB - SuUB Bremen
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