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1 Ergebnisse
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RNA sequencing to support intronic variant interpretation: ..:
Bhola, Priya T.
;
Marshall, Aren E.
;
Liang, Yijing
...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1664-1668 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63184
RT Journal T1
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63184&Exemplar=1&LAN=DE A1 Bhola, Priya T. A1 Marshall, Aren E. A1 Liang, Yijing A1 Couse, Madeline A1 Wang, Xueqi A1 Miller, Elka A1 Morel, Chantal F. A1 Boycott, Kym M. A1 Kernohan, Kristin D. PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 6 SP 1664 OP 1668 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63184 DO https://doi.org/10.1002/ajmg.a.63184 SF ELIB - SuUB Bremen
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