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Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.
Seung Woo Choi
Se Joon Woo
Minji Kim
Sejoon Lee
Kwangsic Joo
Published in:
Translational vision science & technology (2024)
The study introduces novel possibilities suggesting that the homozygous hypomorphic variant of RP1 may be linked to variant pathogenicity.
Keyphrases
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late onset
early onset
optical coherence tomography
diabetic retinopathy
intellectual disability
staphylococcus aureus
cystic fibrosis
biofilm formation
autism spectrum disorder
pseudomonas aeruginosa
age related macular degeneration
cataract surgery