Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.C181*
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LPIN2

NM_001375808.2:p.C181*

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

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.

Ferguson PJ et al.

Biomolecules, 2021

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

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

New genetic interpretation of old diseases.

Touitou I

Autoimmunity Reviews, 2012

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

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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."