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Toward reporting standards for the pathogenicity of variant..:
Papadimitriou, Sofia
;
Gravel, Barbara
;
Nachtegael, Charlotte
...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100165 , 2023
Link:
https://doi.org/10.1016/j.xhgg.2022.100165
RT Journal T1
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.xhgg.2022.100165&Exemplar=1&LAN=DE A1 Papadimitriou, Sofia A1 Gravel, Barbara A1 Nachtegael, Charlotte A1 De Baere, Elfride A1 Loeys, Bart A1 Vikkula, Miikka A1 Smits, Guillaume A1 Lenaerts, Tom PB Elsevier BV YR 2023 SN 2666-2477 JF Human Genetics and Genomics Advances VO 4 IS 1 SP 100165 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2022.100165 DO https://doi.org/10.1016/j.xhgg.2022.100165 SF ELIB - SuUB Bremen
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