Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A3
Variant:p.E95insFs
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SLC27A3

NM_024330.4:p.E95insFs

Associated Papers

Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport.

Rehan Ahmad S et al.

Journal of Human Genetics, 2025

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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."