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Identification of a novel heterozygous guanosine monophosphate reductase ( GMPR ) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance
Sommerville, Ewen W., Dalla Rosa, Ilaria, Rosenberg, Masha M., Bruni, Francesco, Thompson, Kyle, Rocha, Mariana, Blakely, Emma L., He, Langping, Falkous, Gavin, Schaefer, Andrew M., Yu‐Wai‐Man, PatricJournal:
Clinical Genetics
DOI:
10.1111/cge.13652
Date:
October, 2019
File:
PDF, 2.05 MB
2019