The single nucleotide variant at c.662A>G in human RRM2B is a loss‐of‐function mutation
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DOI: 10.1002/mgg3.1497
Abstract: Mitochondrial DNA maintenance defects (MDMDs) is one of the critical pediatric dysfunction. One of the recent report indicated that a severe patient of MDMDs carries the NP_056528.2:p.Asn221Ser (N221S) variation in the RRM2B gene (NM_015713.5). However,… read more here.
Keywords: 662a human; rrm2b; human rrm2b; single nucleotide ... See more keywords