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A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1
- Source :
- Clinical Genetics.
- Publication Year :
- 2023
- Publisher :
- Wiley, 2023.
- Subjects :
- Genetics
Genetics (clinical)
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi...........31e5ce10e6a7c741f391c540f99dbaf5