Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.T180_C181delFs
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LPIN2

NM_001375808.2:p.T180_C181delFs

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

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_2.xlsx › Table_E2_Previously_undiagnosed

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

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

Al-Mosawi ZS et al.

Arthritis and Rheumatism, 2007

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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."