Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.L438delFs
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LPIN2

NM_001375808.2:p.L438delFs

Associated Papers

Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review.

Wang S et al.

Frontiers in Pediatrics, 2025

Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.

Chavan PP et al.

The Journal of Rheumatology, 2021

Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.

Bhuyan F et al.

Arthritis & Rheumatology (hoboken, N.j.), 2021

33314777 (PubMed )
Supplement: ART-73-1021-s001.docx

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Liu J et al.

Bmc Medical Genetics, 2019

Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report.

Al Mosawi Z et al.

Archives of Rheumatology, 2019

Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis.

Moussa T et al.

International Journal of Rheumatic Diseases, 2017

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Efficacy of anti-IL-1 treatment in Majeed syndrome.

Herlin T et al.

Annals of the Rheumatic Diseases, 2013

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