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Novel heterozygous OPA3 variant in a family with congenit... | ResearchHub
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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
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Authors
Monica Penon‐Portmann
5 more
Monica Penon‐Portmann
•
Kendyl Naugle
3 more
•
Joyce So
Published
August 21, 2024
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Journal
American Journal of Medical Genetics Part A
Topics
Biology
Medicine
Molecular Biology
Phenotype
Loss Function
Show all topics
DOI
10.1002/ajmg.a.63846
License
CC-BY
Supporters
Support the authors with ResearchCoin
Tip RSC
Journal
American Journal of Medical Genetics Part A
Topics
Biology
Medicine
Molecular Biology
Phenotype
Loss Function
Show all topics
DOI
10.1002/ajmg.a.63846
License
CC-BY
