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.
2024
https://researcherprofiles.org/profile/539029602
39166438
Penon-Portmann M, Naugle K, Brodie F, Schallhorn J, Griggs P, So J