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PHKA2 variants expand the phenotype of phosphorylase B kina..:
Benner, Anne
;
Alhaidan, Yazeid
;
Lines, Matthew A.
...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 2959-2975 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62383
RT Journal T1 <Title>PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62383&Exemplar=1&LAN=DE A1 Benner, Anne A1 Alhaidan, Yazeid A1 Lines, Matthew A. A1 Brusgaard, Klaus A1 De Leon, Diva D. A1 Sparkes, Rebecca A1 Frederiksen, Anja L. A1 Christesen, Henrik T. PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 10 SP 2959 OP 2975 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62383 DO https://doi.org/10.1002/ajmg.a.62383 SF ELIB - SuUB Bremen
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