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Expanding the phenotype of biallelic loss‐of‐function varia..:
Kato, Kohji
;
Mizuno, Seiji
;
Morton, Jenny
...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 282-285 , 2020
Link:
https://doi.org/10.1002/ajmg.a.61927
RT Journal T1 <Title>Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61927&Exemplar=1&LAN=DE A1 Kato, Kohji A1 Mizuno, Seiji A1 Morton, Jenny A1 Toyama, Miho A1 Hara, Yuichiro A1 Wasmer, Evangeline A1 Lehmann, Alan A1 Ogi, Tomoo PB Wiley YR 2020 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 1 SP 282 OP 285 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61927 DO https://doi.org/10.1002/ajmg.a.61927 SF ELIB - SuUB Bremen
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