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Case of CLPB deficiency solved by HiFi long read genome seq..:
Farrow, Emily
;
Jay, Allison
;
Means, John
...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2908-2912 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63365
RT Journal T1 <Title>Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63365&Exemplar=1&LAN=DE A1 Farrow, Emily A1 Jay, Allison A1 Means, John A1 Younger, Scott A1 Biswell, Rebecca A1 Koseva, Boryana A1 Thiffault, Isabelle A1 Pastinen, Tomi A1 Pappas, Kara A1 Toriello, Helga PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 12 SP 2908 OP 2912 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63365 DO https://doi.org/10.1002/ajmg.a.63365 SF ELIB - SuUB Bremen
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