Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.E347K
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MCAT

NM_173467.5:p.E347K

Associated Papers

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Lenaers G et al.

Brain : a Journal of Neurology, 2023

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.

Gerber S et al.

Genes, 2021

Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases.

Iwata T

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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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."