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
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Li H et al.
Molecular Genetics & Genomic Medicine, 2024
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
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Asif M et al.
Genes, 2022
36672789 (PubMed )
Supplement: genes-14-00048-s001.zip › genes-2033021-supplementary › Supplementary_files › Supplementary_Table_S1_MBOAT7_1.12.2022.xlsx › Sheet1
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.
Sun L et al.
Frontiers in Pediatrics, 2020
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Khan S et al.
Bmc Medical Genetics, 2019
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Johansen A et al.
American Journal of Human Genetics, 2016
Select a paper to view details