Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.T449R
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OPA1

NM_015560.3:p.T449R

Associated Papers

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Charif M et al.

Frontiers in Neurology, 2021

33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Liskova P et al.

Acta Ophthalmologica, 2013

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."