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1 Ergebnisse
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Homozygous variants in pyrroline‐5‐carboxylate reductase 2 ..:
Meng, Linyan
;
Donti, Taraka
;
Xia, Fan
...
American Journal of Medical Genetics Part A. 173 (2016) 2 - p. 460-470 , 2016
Link:
https://doi.org/10.1002/ajmg.a.38049
RT Journal T1 <Title>Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.38049&Exemplar=1&LAN=DE A1 Meng, Linyan A1 Donti, Taraka A1 Xia, Fan A1 Niu, Zhiyv A1 Al Shamsi, Aisha A1 Hertecant, Jozef A1 Al‐Jasmi, Fatma A1 Gibson, James B. A1 Nagakura, Honey A1 Zhang, Jing A1 He, Weimin A1 Eng, Christine A1 Yang, Yaping A1 Elsea, Sarah H. PB Wiley YR 2016 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 173 IS 2 SP 460 OP 470 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.38049 DO https://doi.org/10.1002/ajmg.a.38049 SF ELIB - SuUB Bremen
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