The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders-Reference-Cited by-同舟云学术

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Published:2019-11-15 Issue:2 Volume:41 Page:375-386
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sasorith Souphatta¹²^ORCID,Baux David¹²^ORCID,Bergougnoux Anne¹²,Paulet Damien²,Lahure Alan²,Bareil Corinne¹²,Taulan‐Cadars Magali²,Roux Anne‐Françoise¹²,Koenig Michel¹²,Claustres Mireille²^ORCID,Raynal Caroline¹²

Affiliation:

1. Laboratoire de Génétique MoléculaireCHU de Montpellier Montpellier France

2. EA 7402Université de Montpellier Montpellier France

Funder

Association Vaincre la Mucoviscidose

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23941

Reference68 articles.

1. A method and server for predicting damaging missense mutations

2. Structure of P-Glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding

3. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

4. Nucleoside triphosphates are required to open the CFTR chloride channel

5. Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases

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