Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.E277delFs
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ETFDH

NM_004453.4:p.E277delFs

Associated Papers

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.

Herrero Martín JC et al.

Nature Metabolism, 2024

38243131 (PubMed )
Supplement: 42255_2023_956_MOESM1_ESM.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."