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Novel heterozygous truncating titin variants affecting the ..:
Kelly A. Rich
;
Tia Moscarello
;
Carly Siskind
...
https://doi.org/10.1002/mgg3.1460. , 2020
Link:
https://doi.org/10.1002/mgg3.1460
RT Journal T1
Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:c9ff0cedae104cbf87a7dbbc61d9cf7f&Exemplar=1&LAN=DE A1 Kelly A. Rich A1 Tia Moscarello A1 Carly Siskind A1 Guy Brock A1 Christopher A. Tan A1 Matteo Vatta A1 Thomas L. Winder A1 Bakri Elsheikh A1 Leah Vicini A1 Brianna Tucker A1 Marilly Palettas A1 Ray E. Hershberger A1 John T. Kissel A1 Ana Morales A1 Jennifer Roggenbuck PB Wiley YR 2020 K1 dilated cardiomyopathy K1 genotype‐phenotype correlation K1 skeletal myopathy K1 TTN K1 variant interpretation K1 Genetics K1 QH426-470 JF https://doi.org/10.1002/mgg3.1460 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.1460 DO https://doi.org/10.1002/mgg3.1460 SF ELIB - SuUB Bremen
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