Associated Papers
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.
Alter S et al.
Genes, 2022
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
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B et al.
Orphanet Journal of Rare Diseases, 2019
31500643 (PubMed )
Supplement: 13023_2019_1187_MOESM1_ESM.pdf
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