Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract
Objective We compared the protein structure and pathogenicity of clinically relevant variants of the COG4 gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.Methods and analysis The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2025-01-01
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| Series: | BMJ Open Ophthalmology |
| Online Access: | https://bmjophth.bmj.com/content/10/1/e001906.full |
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