Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation-Reference-Cited by-同舟云学术

Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation

Published:2014-06-24 Issue:8 Volume:35 Page:927-935
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Famiglietti Maria Livia¹,Estreicher Anne¹,Gos Arnaud¹,Bolleman Jerven¹,Géhant Sébastien¹,Breuza Lionel¹,Bridge Alan¹,Poux Sylvain¹,Redaschi Nicole¹,Bougueleret Lydie¹,Xenarios Ioannis¹²³,

Affiliation:

1. Swiss‐Prot Group SIB Swiss Institute of Bioinformatics, Centre Medical Universitaire Geneva Switzerland

2. Vital‐IT Group SIB Swiss Institute of Bioinformatics, Quartier Sorge, Bâtiment Génopode Lausanne Switzerland

3. Center for Integrative Genomics, Quartier Sorge University of Lausanne Lausanne Switzerland

Funder

Swiss Federal Government, the State Secretariat for Education, Research and Innovation SERI

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22594

Reference30 articles.

1. An integrated map of genetic variation from 1,092 human genomes

2. A method and server for predicting damaging missense mutations

3. Network medicine: a network-based approach to human disease

4. Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

5. WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation

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