Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.T97fs
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DNASE1L3

NM_004944.4:p.T97fs

Associated Papers

Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.

Natoli V et al.

Current Rheumatology Reports, 2025

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three Cases.

Volpi S et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2024

Systemic Lupus Erythematosus Patients with DNASE1L3·Deficiency Have a Distinctive and Specific Genic Circular DNA Profile in Plasma.

Gerovska D et al.

Cells, 2023

[A monogenic lupus family caused by homozygous deletions of DNASE1L3 gene and literature review].

Wang W et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

Tusseau M et al.

Journal of Clinical Immunology, 2022

Monogenic lupus caused by mutations in DNASE1L3: A rare cause of systemic lupus erythematosus in children.

Gezgin Yıldırım D et al.

Scandinavian Journal of Immunology, 2022

Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis.

Kisla Ekinci RM et al.

European Journal of Medical Genetics, 2021

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.

Girardelli M et al.

Pediatric Rheumatology Online Journal, 2021

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.

Chan RWY et al.

American Journal of Human Genetics, 2020

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

Belot A et al.

The Lancet. Rheumatology, 2020

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

Batu ED et al.

The Journal of Rheumatology, 2018

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.

Carbonella A et al.

Lupus, 2017

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

Ozçakar ZB et al.

Arthritis and Rheumatism, 2013

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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."