Varaico: Literature-Extracted Genetic Variants

Gene:LIPT1
Variant:p.R98W
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LIPT1

NM_145199.3:p.R98W

Associated Papers

A Multi-Target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models.

Gómez-Fernández D et al.

Antioxidants (basel, Switzerland), 2024

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Barbosa-Gouveia S et al.

Genes, 2021

34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.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."