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
Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
Nazmina G et al.
Clinical Genetics, 2024
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.
Ronzoni L et al.
Genes, 2023
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
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