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6 results
  1. ... systems. To do this, I identify functionally important missense mutations (a genetic change that results in the substitution ... and build the connection between genotype and phenotype. Missense mutations can render proteins nonfunctional and may be responsible ...
  2. ... Mutation Mutagenesis, Insertional Mutation Accumulation Mutation Rate Mutation, Missense Point Mutation Sequence Deletion Chromosome Deletion Gene Deletion Sequence Inversion ...
  3. ... 590.612 Mutation Rate G05.365.590.650 Mutation, Missense G05.365.590.675 Point Mutation G05.365.590.762 Sequence Deletion G05.365. ...
  4. ... 590.612...........................................Mutation Rate G05.365.590.650...........................................Mutation, Missense G05.365.590.675...........................................Point Mutation G05.365. ...
  5. ... Repetitive Sequences, Amino Acid Mutation: Base Pair Mismatch Mutation, Missense Others: Chromosome Segregation Genetic Predisposition to Disease Anticipation, ...
  6. ... Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants .” American ... ( 1R01LM009722 ). Initially issued in 2007, Dr. Mooney’s award ...