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1 Ergebnisse
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EyeG2P: an automated variant filtering approach improves ef..:
Lenassi, Eva
;
Carvalho, Ana
;
Thormann, Anja
...
Journal of Medical Genetics. 60 (2023) 8 - p. 810-818 , 2023
Link:
https://doi.org/10.1136/jmg-2022-108618
RT Journal T1
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmg-2022-108618&Exemplar=1&LAN=DE A1 Lenassi, Eva A1 Carvalho, Ana A1 Thormann, Anja A1 Abrahams, Liam A1 Arno, Gavin A1 Fletcher, Tracy A1 Hardcastle, Claire A1 Lopez, Javier A1 Hunt, Sarah E A1 Short, Patrick A1 Sergouniotis, Panagiotis I A1 Michaelides, Michel A1 Webster, Andrew A1 Cunningham, Fiona A1 Ramsden, Simon C A1 Kasperaviciute, Dalia A1 Fitzpatrick, David R A1 Black, Graeme C A1 Ellingford, Jamie M A1 Genomics England Research Consortium PB BMJ YR 2023 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 60 IS 8 SP 810 OP 818 LK http://dx.doi.org/https://doi.org/10.1136/jmg-2022-108618 DO https://doi.org/10.1136/jmg-2022-108618 SF ELIB - SuUB Bremen
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