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Specifications of the ACMG/AMP Variant Curation Guidelines ..:
DeMille, Desiree
;
McDonald, Jamie
;
Bernabeu, Carmelo
...
Human Mutation. 2024 (2024) - p. 1-13 , 2024
Link:
https://doi.org/10.1155/2024/3043736
RT Journal T1
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1155_2024_3043736&Exemplar=1&LAN=DE A1 DeMille, Desiree A1 McDonald, Jamie A1 Bernabeu, Carmelo A1 Racher, Hilary A1 Olivieri, Carla A1 Cantarini, Claudia A1 Sbalchiero, Anna A1 Thompson, Bryony A. A1 Jovine, Luca A1 Shovlin, Claire L. A1 Dupuis-Girod, Sophie A1 Lesca, Gaetan A1 Tusseau, Maud A1 Ganguly, Arupa A1 Kasthuri, Raj S. A1 Jessen, Jaime A1 Massink, Maarten P. G. A1 Ichikawa, Shoji A1 Bayrak-Toydemir, Pinar A1 Scott, Stuart PB Hindawi Limited YR 2024 SN 1098-1004 SN 1059-7794 JF Human Mutation VO 2024 SP 1 OP 13 LK http://dx.doi.org/https://doi.org/10.1155/2024/3043736 DO https://doi.org/10.1155/2024/3043736 SF ELIB - SuUB Bremen
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