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1 Ergebnisse
1
Clinical and analytical validation of an 82-gene comprehens..:
Chan, Jacqueline
;
Holdstock, Jolyon
;
Shovelton, John
...
PLOS ONE. 19 (2024) 6 - p. e0305422 , 2024
Link:
https://doi.org/10.1371/journal.pone.0305422
RT Journal T1
Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies
UL https://suche.suub.uni-bremen.de/peid=cr-10.1371_journal.pone.0305422&Exemplar=1&LAN=DE A1 Chan, Jacqueline A1 Holdstock, Jolyon A1 Shovelton, John A1 Reid, James A1 Speight, Graham A1 Molha, Duarte A1 Pullabhatla, Venu A1 Carpenter, Stephanie A1 Uddin, Ezam A1 Washio, Takanori A1 Sato, Hiroko A1 Izumi, Yuuki A1 Watanabe, Reiko A1 Niiro, Hayato A1 Fukushima, Yoshiyuki A1 Ashida, Naoko A1 Hirose, Takashi A1 Maeda, Akiko A1 Sharon, Dror PB Public Library of Science (PLoS) YR 2024 SN 1932-6203 JF PLOS ONE VO 19 IS 6 SP e0305422 LK http://dx.doi.org/https://doi.org/10.1371/journal.pone.0305422 DO https://doi.org/10.1371/journal.pone.0305422 SF ELIB - SuUB Bremen
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