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1 Ergebnisse
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An FBN1 deep intronic variant is associated with pseudoexon..:
Guo, Dong‐chuan
;
Duan, Xueyan
;
Mimnagh, Kathleen
...
Clinical Genetics. 103 (2023) 6 - p. 704-708 , 2023
Link:
https://doi.org/10.1111/cge.14322
RT Journal T1
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14322&Exemplar=1&LAN=DE A1 Guo, Dong‐chuan A1 Duan, Xueyan A1 Mimnagh, Kathleen A1 Cecchi, Alana C. A1 Marin, Isabella C. A1 Yu, Yang A1 Velasco, Walter V. A1 Lee, Kwanghyuk A1 Zhu, Xue A1 Murdock, David R. A1 Leal, Suzanne M. A1 Wheeler, Marsha M. A1 Smith, Josh A1 Bamshad, Michael J. A1 Milewicz, Dianna M. PB Wiley YR 2023 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 103 IS 6 SP 704 OP 708 LK http://dx.doi.org/https://doi.org/10.1111/cge.14322 DO https://doi.org/10.1111/cge.14322 SF ELIB - SuUB Bremen
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