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1 Ergebnisse
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A homozygous Gly470Ala variant in PEX6 causes severe Zellwe..:
Galarreta, Carolina I.
;
Wong, Karen
;
Carmichael, Jason
...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2057-2063 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63234
RT Journal T1
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63234&Exemplar=1&LAN=DE A1 Galarreta, Carolina I. A1 Wong, Karen A1 Carmichael, Jason A1 Woods, Jeremy A1 Tise, Christina G. A1 Niehaus, Annie D. A1 Schildt, Alison J. A1 Verscaj, Courtney P. A1 Cusmano‐Ozog, Kristina P. PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 8 SP 2057 OP 2063 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63234 DO https://doi.org/10.1002/ajmg.a.63234 SF ELIB - SuUB Bremen
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