Homozygosity for c.2607C > A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE .
O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O O B-OrganismTaxon O O O O O O O O B-DiseaseOrPhenotypicFeature O