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Image Search Results
Journal: Genes
Article Title: Uncovering Missing Heritability in Rare Diseases
doi: 10.3390/genes10040275
Figure Lengend Snippet: Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).
Article Snippet: Lionel et al. 2 , 2018 , OTC , Ornithine transcarbamylase deficiency ,
Techniques: Sequencing, Variant Assay, Translocation Assay