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1 Ergebnisse
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:
Donkervoort, Sandra
;
Mohassel, Payam
;
OLeary, Melanie
...
qt84h8525x. , 2024
Link:
https://escholarship.org/uc/item/84h8525x
RT Journal T1
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt84h8525x&Exemplar=1&LAN=DE A1 Donkervoort, Sandra A1 Mohassel, Payam A1 OLeary, Melanie A1 Bonner, Devon A1 Hartley, Taila A1 Acquaye, Nicole A1 Brull, Astrid A1 Saporta, Mario A1 Dyment, David A1 Sampson, Jacinda A1 Pajusalu, Sander A1 Austin-Tse, Christina A1 Hurth, Kyle A1 Cohen, Julie A1 McWalter, Kirsty A1 Warman-Chardon, Jodi A1 Crunk, Amy A1 Foley, A A1 Mammen, Andrew A1 Wheeler, Matthew A1 ODonnell-Luria, Anne A1 Bönnemann, Carsten A1 Mozaffar, Tahseen PB eScholarship, University of California YR 2024 K1 Adult K1 Humans K1 Muscular Diseases K1 Muscle K1 Skeletal K1 Actinin K1 Phenotype K1 Cardiomyopathies JF qt84h8525x LK http://dx.doi.org/https://escholarship.org/uc/item/84h8525x DO https://escholarship.org/uc/item/84h8525x SF ELIB - SuUB Bremen
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