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Discovery of a de novo ITPR1 missense mutation in a patient..:
In Lee, Jae
;
Choi, Ja Young
;
Yang, Shin‐Seung
Molecular Genetics & Genomic Medicine. 12 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1002/mgg3.2466
RT Journal T1
Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mgg3.2466&Exemplar=1&LAN=DE A1 In Lee, Jae A1 Choi, Ja Young A1 Yang, Shin‐Seung PB Wiley YR 2024 SN 2324-9269 SN 2324-9269 JF Molecular Genetics & Genomic Medicine VO 12 IS 6 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.2466 DO https://doi.org/10.1002/mgg3.2466 SF ELIB - SuUB Bremen
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