Varaico: Literature-Extracted Genetic Variants

Gene:LACC1
Variant:p.I330del1
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LACC1

NM_153218.4:p.I330del1

Associated Papers

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

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.

Alexeeva E et al.

Frontiers in Medicine, 2023

New or vanishing frontiers: LACC1-associated juvenile arthritis.

Al-Mayouf SM et al.

International Journal of Pediatrics & Adolescent Medicine, 2021

LACC1 gene mutation in three sisters with polyarthritis without systemic features.

Singh A et al.

Annals of the Rheumatic Diseases, 2020

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

Cader MZ et al.

Cell, 2020

31978345 (PubMed )
Supplement: mmc1.pdf

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.

Rabionet R et al.

Scientific Reports, 2019

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Beck DB et al.

Frontiers in Immunology, 2019

LACC1 Gene Defects in Familial Form of Juvenile Arthritis.

Karacan I et al.

The Journal of Rheumatology, 2018

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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."