Article

Predicting the phenotype of Mendelian disease missense mutations using amino acid conservation and protein stability change

2016-11-08

Abstract excerpt

Many Mendelian diseases are caused by recessive, loss-of-function missense mutations. On a gene-by-gene basis, it has been demonstrated that missense mutations cause, among other defects, protein misfolding, protein instability, protein mistransport, which strongly suggests that pathogenic missense mutations do not occur at random positions. Based on those observations, we predicted that Mendelian disease missense...

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Literature Corpus work: d6e09cee-87cd-52c6-ad70-58a16af4623a
DOI: 10.1101/086470

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