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A patient with compound heterozygosity of SMPD4: Another ex..:
Yamada, Mamiko
;
Suzuki, Hisato
;
Shima, Taiki
..
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 613-617 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62535
RT Journal T1 <Title>A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62535&Exemplar=1&LAN=DE A1 Yamada, Mamiko A1 Suzuki, Hisato A1 Shima, Taiki A1 Uehara, Tomoko A1 Kosaki, Kenjiro PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 2 SP 613 OP 617 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62535 DO https://doi.org/10.1002/ajmg.a.62535 SF ELIB - SuUB Bremen
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