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A cryptic splice-altering KCNQ1 variant in trans with R259L..:
Torrado, Mario
;
Fernández, Germán
;
Ganoza, Christian A.
...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/s41525-021-00183-y
RT Journal T1
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41525-021-00183-y&Exemplar=1&LAN=DE A1 Torrado, Mario A1 Fernández, Germán A1 Ganoza, Christian A. A1 Maneiro, Emilia A1 García, Diego A1 Sonicheva-Paterson, Natalia A1 Rosa, Isaac A1 Ochoa, Juan Pablo A1 Santomé, Luis A1 Vasichkina, Elena A1 Monserrat, Lorenzo PB Springer Science and Business Media LLC YR 2021 SN 2056-7944 JF npj Genomic Medicine VO 6 IS 1 LK http://dx.doi.org/https://doi.org/10.1038/s41525-021-00183-y DO https://doi.org/10.1038/s41525-021-00183-y SF ELIB - SuUB Bremen
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