Varaico: Literature-Extracted Genetic Variants

Gene:LACC1
Variant:p.T276fs
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LACC1

NM_153218.4:p.T276fs

Associated Papers

[Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis].

Knieper AM et al.

Zeitschrift Fur Rheumatologie, 2024

Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.

Wu Y et al.

Molecular Genetics & Genomic Medicine, 2023

A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.

Butbul Aviel Y et al.

Rheumatology (oxford, England), 2021

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.

Omarjee O et al.

The Journal of Experimental Medicine, 2021

New or vanishing frontiers: LACC1-associated juvenile arthritis.

Al-Mayouf SM et al.

International Journal of Pediatrics & Adolescent Medicine, 2021

FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle.

Cader MZ et al.

Cell, 2020

31978345 (PubMed )
Supplement: mmc1.pdf

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Beck DB et al.

Frontiers in Immunology, 2019

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.

Kallinich T et al.

Pediatric Rheumatology Online Journal, 2016

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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."