preprint reviews by Jeffrey G. Reid

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

Sourced from http://biorxiv.org/content/early/2016/11/08/086470.

Maria T Chavez, Ethan O Perlstein

Review posted on 29th November 2016

The authors offer a dissection of the impact of missense mutations on disease by focusing on genes with previously characterized Mendelian disease associations in genes affecting cellular organelle...

See full review here.