KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses

Background Germline variants of ten keratin genes ( K1 , K2 , K5 , K6A , K6B , K9 , K10 , K14 , K16 , and K17 ) have been reported for causing different types of genodermatoses with an autosomal dominant mode of inheritance. Among all the variants of these ten keratin genes, most of them are missens...

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Veröffentlicht in:	Human genomics Jg. 14; H. 1; S. 45 - 8
Hauptverfasser:	Ying, Yuyi, Lu, Lu, Banerjee, Santasree, Xu, Lizhen, Zhao, Qiang, Wu, Hao, Li, Ruiqi, Xu, Xiao, Yu, Hua, Neculai, Dante, Xi, Yongmei, Yang, Fan, Qin, Jiale, Li, Chen
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 07.12.2020 Springer Nature B.V BMC
Schlagworte:	Bioinformatics Biomedical and Life Sciences Biomedicine Computer applications Cytoskeleton Disease Evolutionary conservation Genes Genetic counseling Genodermatoses Genotype & phenotype Genotypes Heredity Human Genetics Keratin Keratin genes Missense variants Mutation Novel variants Pathogenicity Phenotypes Physicochemical properties Primary Research Protein structure Proteins Proteomics Structure-function relationships Pathogenicity Database Missense variants Keratin genes Novel variants Genodermatoses
ISSN:	1479-7364, 1473-9542, 1479-7364
Online-Zugang:	Volltext
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