Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.L830R
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MED13

NM_005121.3:p.L830R

Associated Papers

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.

Harada M et al.

Human Genome Variation, 2025

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

Pijuan J et al.

Frontiers in Neuroscience, 2022

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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."