Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.A1154T
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C3

NM_000064.4:p.A1154T

Associated Papers

Leber Hereditary Optic Neuropathy and Epilepsy in a Mexican Patient.

García Gómez E et al.

Cureus, 2025

Clinical trials in Leber hereditary optic neuropathy: outcomes and opportunities.

Chen BS et al.

Current Opinion in Neurology, 2025

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.

Swart G et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024

Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant.

Stefanetti RJ et al.

Brain Communications, 2024

MS diagnosis in a male patient with m.11778G > A Leber's hereditary optic neuropathy.

Scoppettuolo P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Clinical Reasoning: A 31-Year-Old Man With Sequential Vision Loss.

Fortes B et al.

Neurology, 2022

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

Chao de la Barca JM et al.

Brain : a Journal of Neurology, 2016

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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."