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Novel mutation identification and copy number variant detec..:
Edmund S. Cauley
;
Alan Pittman
;
Swati Mummidivarpu
...
https://doi.org/10.1002/mgg3.1387. , 2020
Link:
https://doi.org/10.1002/mgg3.1387
RT Journal T1
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:30bb022ab7354e7990f235b44b44dd59&Exemplar=1&LAN=DE A1 Edmund S. Cauley A1 Alan Pittman A1 Swati Mummidivarpu A1 Ehsan G. Karimiani A1 Samantha Martinez A1 Isabella Moroni A1 Reza Boostani A1 Daniele Podini A1 Marina Mora A1 Yalda Jamshidi A1 Eric P. Hoffman A1 M. Chiara Manzini PB Wiley YR 2020 K1 CNV analysis K1 congenital muscular dystrophy K1 exome sequencing K1 LAMA2 K1 Genetics K1 QH426-470 JF https://doi.org/10.1002/mgg3.1387 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.1387 DO https://doi.org/10.1002/mgg3.1387 SF ELIB - SuUB Bremen
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