An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65
hRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range of diseases. Many hRPE65 missense mutations lack a clear pathogenicity classification or are labelled as VUS. In this context, we recently de...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
Taylor & Francis Group,
2023-12-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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