Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.E601K
Back to variants list

LPIN2

NM_001375808.2:p.E601K

Associated Papers

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Guzel F et al.

Frontiers in Immunology, 2021

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Papa R et al.

Rheumatology (oxford, England), 2020

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M et al.

Annals of the Rheumatic Diseases, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
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."