Varaico: Literature-Extracted Genetic Variants

Gene:F3
Variant:p.S194S
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F3

NM_001993.5:p.S194S

Associated Papers

New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant: Time for Acute Genetic Testing Before Treatment?

Indelicato E et al.

Neurology. Genetics, 2023

Expanding the clinical spectrum of MTTF mutations.

Barcia G et al.

Molecular Genetics and Metabolism Reports, 2019

Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

Zhang AM et al.

Plos One, 2011

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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."