Associated Papers
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing.
Zhang L et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.
Li YY et al.
European Journal of Medical Genetics, 2023
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Massadeh S et al.
Frontiers in Neurology, 2019
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