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1 Ergebnisse
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Identification and validation of a novel pathogenic variant..:
Balachandar, Srimmitha
;
Graves, Tamara J.
;
Shimonty, Anika
...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 959-964 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62584
RT Journal T1
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62584&Exemplar=1&LAN=DE A1 Balachandar, Srimmitha A1 Graves, Tamara J. A1 Shimonty, Anika A1 Kerr, Katie A1 Kilner, Jill A1 Xiao, Sihao A1 Slade, Richard A1 Sroya, Manveer A1 Alikian, Mary A1 Curetean, Emanuel A1 Thomas, Ellen A1 McConnell, Vivienne P. M. A1 McKee, Shane A1 Boardman‐Pretty, Freya A1 Devereau, Andrew A1 Fowler, Tom A. A1 Caulfield, Mark J. A1 Alton, Eric W. A1 Ferguson, Teena A1 Redhead, Julian A1 McKnight, Amy J. A1 Thomas, Geraldine A. A1 Aldred, Micheala A. A1 Shovlin, Claire L. A1 Genomics England Research Consortium PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 3 SP 959 OP 964 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62584 DO https://doi.org/10.1002/ajmg.a.62584 SF ELIB - SuUB Bremen
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