Associated Papers
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK et al.
Human Mutation, 2017
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S et al.
European Journal of Human Genetics : Ejhg, 2005
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