Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.D250N
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DNASE1

NM_005223.4:p.D250N

Associated Papers

A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.

Stabach PR et al.

Jci Insight, 2024

38888971 (PubMed )
Supplement: jciinsight-9-177003-s125.pdf

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

31541133 (PubMed )
Supplement: 41598_2019_49935_MOESM2_ESM.pdf

[Finnish type mutations leading to heart disorders].

Kontula K

Duodecim; Laaketieteellinen Aikakauskirja, 2005

[Lipoprotein lipase: a multifunctional enzyme in lipoprotein metabolism].

Foubert L et al.

Presse Medicale (paris, France : 1983), 1996

[Molecular genetics and lipoprotein lipase deficiency].

Foubert L et al.

Bulletin De L'academie Nationale De Medecine, 1994

[Inherited low serum HDL-cholesterol levels and anemia--the first Finnish LCAT-deficient family].

Gylling H et al.

Duodecim; Laaketieteellinen Aikakauskirja, 1993

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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."