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1 Ergebnisse
1
A synonymous codon variant altering splicing of RBCK1 expan..:
Wen, Qi
;
Zhu, Wenjia
;
Wen, Xinmei
...
Clinical Genetics. 104 (2023) 3 - p. 387-389 , 2023
Link:
https://doi.org/10.1111/cge.14350
RT Journal T1
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14350&Exemplar=1&LAN=DE A1 Wen, Qi A1 Zhu, Wenjia A1 Wen, Xinmei A1 Zhang, Shu A1 Sun, Yanan A1 Li, Yun A1 Wang, Jingsi A1 Wang, Yaye A1 Duo, Jianying A1 Huang, Yue A1 Lu, Yan A1 Di, Li A1 Xu, Min A1 Wang, Min A1 Chen, Hai A1 Da, Yuwei PB Wiley YR 2023 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 104 IS 3 SP 387 OP 389 LK http://dx.doi.org/https://doi.org/10.1111/cge.14350 DO https://doi.org/10.1111/cge.14350 SF ELIB - SuUB Bremen
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