Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.D1154N
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SETD2

NM_014159.7:p.D1154N

Associated Papers

Proteomic Profiling Reveals Increased Glycolysis, Decreased Oxidoreductase Activity and Fatty Acid Degradation in Skin Derived Fibroblasts from LHON Patients Bearing m.G11778A.

Yao S et al.

Biomolecules, 2022

Choroidal thickness and the retinal ganglion cell complex in chronic Leber's hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography.

Darvizeh F et al.

Eye (london, England), 2020

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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."