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
MBOAT7 in liver and extrahepatic diseases.
Caddeo A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation.
Ozpinar E et al.
Neurology India, 0
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