Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.T95M
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OPA1

NM_130837.3:p.T95M

Associated Papers

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A et al.

Biochimica Et Biophysica Acta, 2016

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M et al.

Human Mutation, 2009

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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."