A1ATVar: a relational database of humanSERPINA1gene variants leading to α1-antitrypsin deficiency and application of the VariVis software-Reference-Cited by-同舟云学术

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A1ATVar: a relational database of humanSERPINA1gene variants leading to α1-antitrypsin deficiency and application of the VariVis software

Published:2008-11-19 Issue:3 Volume:30 Page:308-313
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Zaimidou Sophia,van Baal Sjozef,Smith Timothy D.,Mitropoulos Konstantinos,Ljujic Mila,Radojkovic Dragica,Cotton Richard G.,Patrinos George P.

Funder

Asclepion Genetics, Switzerland

European Commission EuroGenTest FP6 Network of Excellence

Serbian Ministry of Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20857/fullpdf

Reference27 articles.

1. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

2. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases;Béroud;Hum Mutat,2000

3. MuStaR and other software for locus-specific mutation databases;Brown;Hum Mutat,2000

4. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases;Claustres;Genome Res,2002

5. A survey of locus-specific database curation. Human Genome Variation Society;Cotton;J Med Genet,2007

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1. Tracing genetic diversity captures the molecular basis of misfolding disease;Nature Communications;2024-04-18

2. Profiling Genetic Diversity Reveals the Molecular Basis for Balancing Function with Misfolding in Alpha-1 Antitrypsin;2022-03-04

3. The Effects of RareSERPINA1Variants on Lung Function and Emphysema in SPIROMICS;American Journal of Respiratory and Critical Care Medicine;2020-03-01

4. Human Genomic Databases in Translational Medicine;Human Genome Informatics;2018

5. Endobronchiale Metastasierung eines malignen Melanoms ohne ersichtlichen Primärtumor;Pneumologie;2017-05-30

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