Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.L41delFs
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MBOAT7

NM_024298.5:p.L41delFs

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

Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance.

Kousa A et al.

Annals of Medicine and Surgery (2012), 2024

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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."