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1 Ergebnisse
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Adapting the ACMG/AMP variant classification framework: A p..:
Kountouris, Petros
;
Stephanou, Coralea
;
Lederer, Carsten W.
...
Human Mutation. 43 (2021) 8 - p. 1089-1096 , 2021
Link:
https://doi.org/10.1002/humu.24280
RT Journal T1
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24280&Exemplar=1&LAN=DE A1 Kountouris, Petros A1 Stephanou, Coralea A1 Lederer, Carsten W. A1 Traeger‐Synodinos, Joanne A1 Bento, Celeste A1 Harteveld, Cornelis L. A1 Fylaktou, Eirini A1 Koopmann, Tamara T. A1 Halim‐Fikri, Hashim A1 Michailidou, Kyriaki A1 Nfonsam, Landry E. A1 Waye, John S. A1 Zilfalil, Bin A. A1 Kleanthous, Marina A1 ClinGen Hemoglobinopathy Variant Curation Expert Panel PB Hindawi Limited YR 2021 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 43 IS 8 SP 1089 OP 1096 LK http://dx.doi.org/https://doi.org/10.1002/humu.24280 DO https://doi.org/10.1002/humu.24280 SF ELIB - SuUB Bremen
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