We were excited by these studies as @SofieVincents earlier had studied a subset of MSH2 variants and showed that many disease variants were unstable and degraded in cells. We also showed how we could capture these using stability and sequence analyses. 5/n
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12,925 followers
Incidentally, our work in this area begun w this gene (https://t.co/Y3APgccRKS) and where we (@SofieVincents @_amelie_rocks et al) found many disease variants are unstable (https://t.co/SwrM6ogKAY). Nice to see how some but not all vars can be explained by
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And about how he helped us to use likelihood models for amino acid sequences to predict the pathogenicity of mutations in Lynch syndrome https://t.co/Rs55CADZoX
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RT @uranus_2: リンチ症候群ってあるんだな。Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations https://t.co/Ku…