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A homozygous exonic variant leading to exon skipping in ABC..:
Reyes Diaz, Jacqueline V.
;
Jin, Yulin
;
Garber, Kathryn
...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2429-2433 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62843
RT Journal T1 <Title>A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62843&Exemplar=1&LAN=DE A1 Reyes Diaz, Jacqueline V. A1 Jin, Yulin A1 Garber, Kathryn A1 Cossen, Kristina M. A1 Li, Yujing A1 Jin, Peng A1 Li, Hong A1 Ham, Jee‐Young Nina PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 8 SP 2429 OP 2433 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62843 DO https://doi.org/10.1002/ajmg.a.62843 SF ELIB - SuUB Bremen
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