Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R38Q
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OPA1

NM_130837.3:p.R38Q

Associated Papers

Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.

Chang YH et al.

Investigative Ophthalmology & Visual Science, 2022

35506936 (PubMed )
Supplement: iovs-63-5-5_s002.pdf

Characterization of SSBP1-related optic atrophy and foveopathy.

Meunier I et al.

Scientific Reports, 2021

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Xu X et al.

Molecular Genetics and Genomics : Mgg, 2021

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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."