Associated Papers
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
Zhao S et al.
Frontiers in Genetics, 2022
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
Pillai NR et al.
American Journal of Medical Genetics. Part A, 2020
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