Associated Papers
A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance.
Saba N et al.
Biochemical Genetics, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
De la Rosa SO et al.
Epilepsia, 2025
40116760 (PubMed )
Supplement: EPI-66-2379-s001.xlsx › Data
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Li H et al.
Molecular Genetics & Genomic Medicine, 2024
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