Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.R776Splc
Back to variants list

LPIN2

NM_001375808.2:p.R776Splc

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

Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study.

Hao C et al.

Human Mutation, 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

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

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

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

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Al-Mosawi ZS et al.

Arthritis and Rheumatism, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."