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A new syndrome of moyamoya disease, kidney dysplasia, amino..:
Strong, Alanna
;
O'Grady, Gina
;
Shih, Evelyn
...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2168-2174 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62215
RT Journal T1 <Title>A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62215&Exemplar=1&LAN=DE A1 Strong, Alanna A1 O'Grady, Gina A1 Shih, Evelyn A1 Bishop, Jonathan R. A1 Loomes, Kathleen A1 Diamond, Tamir A1 Hartung, Erum A. A1 Wong, William A1 Cuddapah, Sanmati A1 Cahill, Anne Marie A1 Hou, Cuiping A1 Slater, Diana A1 Vaccaro, Courtney A1 Watson, Deborah A1 Li, Dong A1 Hakonarson, Hakon PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 7 SP 2168 OP 2174 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62215 DO https://doi.org/10.1002/ajmg.a.62215 SF ELIB - SuUB Bremen
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