Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RA
Variant:p.G196R
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CSF2RA

NM_172245.4:p.G196R

Associated Papers

A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review.

Chen Q et al.

Molecular Genetics & Genomic Medicine, 2025

Interstitial lung disease in the newborn.

Giunta-Stibb H et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2025

Alveolar proteinosis of genetic origins.

Hadchouel A et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2020

Function and Safety of Lentivirus-Mediated Gene Transfer for CSF2RA-Deficiency.

Hetzel M et al.

Human Gene Therapy Methods, 2017

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Hildebrandt J et al.

Orphanet Journal of Rare Diseases, 2014

Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia?

Santiago-Burruchaga M et al.

Respiratory Medicine, 2013

Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy.

Suzuki T et al.

American Journal of Respiratory and Critical Care Medicine, 2010

The molecular basis of pulmonary alveolar proteinosis.

Carey B et al.

Clinical Immunology (orlando, Fla.), 2010

Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages.

Trapnell BC et al.

Current Opinion in Immunology, 2009

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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."