Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.H42Y
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OPA1

NM_130837.3:p.H42Y

Associated Papers

The Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease.

Zanfardino P et al.

Biomolecules, 2025

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.

Zanfardino P et al.

Human Molecular Genetics, 2024

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.

Liao EN et al.

Jama Network Open, 2022

36166228 (PubMed )
Supplement: jamanetwopen-e2233441-s001.pdf
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