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1 Ergebnisse
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Targeted sequencing and in vitro splice assays shed light o..:
Zelia Corradi
;
Mubeen Khan
;
Rebekkah Hitti-Malin
...
http://www.sciencedirect.com/science/article/pii/S2666247723000696. , 2023
Link:
https://doi.org/10.1016/j.xhgg.2023.100237
RT Journal T1
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:a1a8d45cbb204fa082951b43db411a0f&Exemplar=1&LAN=DE A1 Zelia Corradi A1 Mubeen Khan A1 Rebekkah Hitti-Malin A1 Ketan Mishra A1 Laura Whelan A1 Stéphanie S. Cornelis A1 Carel B. Hoyng A1 Kati Kämpjärvi A1 Caroline C.W. Klaver A1 Petra Liskova A1 Heidi Stöhr A1 Bernhard H.F. Weber A1 Sandro Banfi A1 G. Jane Farrar A1 Dror Sharon A1 Jana Zernant A1 Rando Allikmets A1 Claire-Marie Dhaenens A1 Frans P.M. Cremers PB Elsevier YR 2023 K1 ABCA4 K1 ABCA4-associated retinopathies K1 missing heritability K1 smMIPs sequencing K1 deep-intronic variants K1 Genetics K1 QH426-470 JF http://www.sciencedirect.com/science/article/pii/S2666247723000696 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2023.100237 DO https://doi.org/10.1016/j.xhgg.2023.100237 SF ELIB - SuUB Bremen
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