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1 Ergebnisse
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Clinical RNA sequencing confirms compound heterozygous intr..:
Shillington, Amelle
;
Zea Vera, Alonso
;
Perry, Tanya
...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021
Link:
https://doi.org/10.1002/mgg3.1804
RT Journal T1
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mgg3.1804&Exemplar=1&LAN=DE A1 Shillington, Amelle A1 Zea Vera, Alonso A1 Perry, Tanya A1 Hopkin, Robert A1 Thomas, Cameron A1 Cooper, David A1 Suhrie, Kristen PB Wiley YR 2021 SN 2324-9269 SN 2324-9269 JF Molecular Genetics & Genomic Medicine VO 9 IS 10 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.1804 DO https://doi.org/10.1002/mgg3.1804 SF ELIB - SuUB Bremen
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