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1 Ergebnisse
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Phenotype Driven Analysis of Whole Genome Sequencing Identi..:
Di Scipio, Matteo
;
Tavares, Erika
;
Deshmukh, Shriya
...
Investigative Opthalmology & Visual Science. 61 (2020) 10 - p. 36 , 2020
Link:
https://doi.org/10.1167/iovs.61.10.36
RT Journal T1
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
UL https://suche.suub.uni-bremen.de/peid=cr-10.1167_iovs.61.10.36&Exemplar=1&LAN=DE A1 Di Scipio, Matteo A1 Tavares, Erika A1 Deshmukh, Shriya A1 Audo, Isabelle A1 Green-Sanderson, Kit A1 Zubak, Yuliya A1 Zine-Eddine, Fayçal A1 Pearson, Alexander A1 Vig, Anjali A1 Tang, Chen Yu A1 Mollica, Antonio A1 Karas, Jonathan A1 Tumber, Anupreet A1 Yu, Caberry W. A1 Billingsley, Gail A1 Wilson, Michael D. A1 Zeitz, Christina A1 Héon, Elise A1 Vincent, Ajoy PB Association for Research in Vision and Ophthalmology (ARVO) YR 2020 SN 1552-5783 JF Investigative Opthalmology & Visual Science VO 61 IS 10 SP 36 LK http://dx.doi.org/https://doi.org/10.1167/iovs.61.10.36 DO https://doi.org/10.1167/iovs.61.10.36 SF ELIB - SuUB Bremen
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