Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.E253fs
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MBOAT7

NM_024298.5:p.E253fs

Associated Papers

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

De la Rosa SO et al.

Epilepsia, 2025

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

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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."