Concepedia

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Luca Bello, Paola Melacini, Raffaele Pezzani, Adele D’Amico, Luisa Piva, Emanuela Leonardi, Annalaura Torella, Gianni Sorarú, Arianna Palmieri, Gessica Smaniotto,

European Journal of Human Genetics · 2012 · 33 citations · 33 references

DOI

Concepts

References

33

UniProt: the Universal Protein knowledgebase

Rolf Apweiler · Nucleic Acids Research · 2003 · 7.8K citations · Full text

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I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure

Emidio Capriotti, Piero Fariselli, Rita Casadio · Nucleic Acids Research · 2005 · 2.1K citations · Full text

, , +13

Prediction of protein stability changes for single‐site mutations using support vector machines

Jianlin Cheng, Arlo Randall, Pierre Baldi · Proteins Structure Function and Bioinformatics · 2005 · 1.2K citations

, , +9

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

Emidio Capriotti, Remo Calabrese, Rita Casadio · Bioinformatics · 2006 · 968 citations · Full text

, , +14

SNAP: predict effect of non-synonymous polymorphisms on function

Yana Bromberg, Burkhard Rost · Nucleic Acids Research · 2007 · 876 citations · Full text

, , +15