Associated Papers
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 2022
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N et al.
Plos One, 2021
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T et al.
Brain : a Journal of Neurology, 2014
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