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A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1

Authors :
Qi Wen
Wenjia Zhu
Xinmei Wen
Shu Zhang
Yanan Sun
Yun Li
Jingsi Wang
Yaye Wang
Jianying Duo
Yue Huang
Yan Lu
Li Di
Min Xu
Min Wang
Hai Chen
Yuwei Da
Source :
Clinical Genetics.
Publication Year :
2023
Publisher :
Wiley, 2023.

Subjects

Subjects :
Genetics
Genetics (clinical)

Details

ISSN :
13990004 and 00099163
Database :
OpenAIRE
Journal :
Clinical Genetics
Accession number :
edsair.doi...........31e5ce10e6a7c741f391c540f99dbaf5