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Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity

Genetic variants, such as single nucleotide polymorphisms (SNPs), in the deoxyribonuclease I (DNase I) gene which remarkably reduce or abolish the activity are assumed to be substantially responsible for the genetic backgrounds determining susceptibility to autoimmune dysfunction. Here, we evaluated...

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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Ueki, Misuzu, Kimura-Kataoka, Kaori, Fujihara, Junko, Iida, Reiko, Kawai, Yasuyuki, Kusaka, Akari, Sasaki, Takamitsu, Takeshita, Haruo, Yasuda, Toshihiro
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6754452/
https://ncbi.nlm.nih.gov/pubmed/31541133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-49935-y
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