Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.T271I
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MCAT

NM_173467.5:p.T271I

Associated Papers

Mitochondrial phosphopantetheinylation is required for oxidative metabolism.

Norden PR et al.

Metabolism: Clinical and Experimental, 2026

Mitochondrial Phosphopantetheinylation is Required for Oxidative Function.

Norden PR et al.

Biorxiv : the Preprint Server for Biology, 2025

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.

Webb BD et al.

Elife, 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."