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A de novo missense mutation in the inositol 1,4,5‐triphosph..:
van Dijk, Tessa
;
Barth, Peter
;
Reneman, Liesbeth
...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 207-212 , 2016
Link:
https://doi.org/10.1002/ajmg.a.37962
RT Journal T1 <Title>A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.37962&Exemplar=1&LAN=DE A1 van Dijk, Tessa A1 Barth, Peter A1 Reneman, Liesbeth A1 Appelhof, Bart A1 Baas, Frank A1 Poll‐The, Bwee Tien PB Wiley YR 2016 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 173 IS 1 SP 207 OP 212 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.37962 DO https://doi.org/10.1002/ajmg.a.37962 SF ELIB - SuUB Bremen
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