Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.Y159*
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MBOAT7

NM_024298.5:p.Y159*

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

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

34356170 (PubMed )
Supplement: brainsci-11-00936-s001.zip › Table_S2.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."