Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.K5*
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DNASE1

NM_005223.4:p.K5*

Associated Papers

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.

Ueki M et al.

Scientific Reports, 2019

Identification of the functional alleles of the nonsynonymous single-nucleotide polymorphisms potentially implicated in systemic lupus erythematosus in the human deoxyribonuclease I gene.

Kimura-Kataoka K et al.

Dna and Cell Biology, 2014

Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.

Ueki M et al.

The Febs Journal, 2014

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects.

Belguith-Maalej S et al.

Rheumatology International, 2009

Mutation of DNASE1 in people with systemic lupus erythematosus.

Yasutomo K et al.

Nature Genetics, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."