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1 Ergebnisse
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Adaptation and validation of the ACMG/AMP variant classific..:
Kelly, Melissa A.
;
Caleshu, Colleen
;
Morales, Ana
...
Genetics in Medicine. 20 (2018) 3 - p. 351-359 , 2018
Link:
https://doi.org/10.1038/gim.2017.218
RT Journal T1
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_gim.2017.218&Exemplar=1&LAN=DE A1 Kelly, Melissa A. A1 Caleshu, Colleen A1 Morales, Ana A1 Buchan, Jillian A1 Wolf, Zena A1 Harrison, Steven M. A1 Cook, Stuart A1 Dillon, Mitchell W. A1 Garcia, John A1 Haverfield, Eden A1 Jongbloed, Jan D.H. A1 Macaya, Daniela A1 Manrai, Arjun A1 Orland, Kate A1 Richard, Gabriele A1 Spoonamore, Katherine A1 Thomas, Matthew A1 Thomson, Kate A1 Vincent, Lisa M. A1 Walsh, Roddy A1 Watkins, Hugh A1 Whiffin, Nicola A1 Ingles, Jodie A1 van Tintelen, J. Peter A1 Semsarian, Christopher A1 Ware, James S. A1 Hershberger, Ray A1 Funke, Birgit PB Elsevier BV YR 2018 SN 1098-3600 JF Genetics in Medicine VO 20 IS 3 SP 351 OP 359 LK http://dx.doi.org/https://doi.org/10.1038/gim.2017.218 DO https://doi.org/10.1038/gim.2017.218 SF ELIB - SuUB Bremen
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