Predicting disease-associated mutation of metal-binding sites in proteins using a deep learning approach

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ClinVar: public archive of relationships among sequence variation and human phenotype

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The Universal Protein Resource (UniProt): an expanding universe of protein information

Cathy Wu · Nucleic Acids Research · 2005 · 1.1K citations · Full text

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SNAP: predict effect of non-synonymous polymorphisms on function

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

Life Sciences, Genetics, Molecular Genetics +15

Functional annotations improve the predictive score of human disease-related mutations in proteins

Remo Calabrese, Emidio Capriotti, Piero Fariselli et al. · Human Mutation · 2009 · 716 citations · Full text

Life Sciences, Bioinformatics, Genetics +17