Novel Heterozygous OPA3 Variant in a Family with Congenital Cataracts, Sensorineural Hearing Loss and Neuropathy, Without Optic Atrophy and Comparison of Pathogenic and Population Variants
AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2024)
Key words
congenital cataracts,mitochondrial,neuropathy,OPA3,optic atrophy,sensorineural hearing loss
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