Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RA
Variant:p.R217*
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CSF2RA

NM_172245.4:p.R217*

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

Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.

Jinson S et al.

Pediatric Pulmonology, 2025

Induced pluripotent stem cell-derived macrophages as a platform for modelling human disease.

Tiwari SK et al.

Nature Reviews. Immunology, 2025

Alveolar proteinosis of genetic origins.

Hadchouel A et al.

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

Pulmonary alveolarproteinosis in children.

Bush A et al.

Breathe (sheffield, England), 2020

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Hildebrandt J et al.

Orphanet Journal of Rare Diseases, 2014

Use of induced pluripotent stem cells to recapitulate pulmonary alveolar proteinosis pathogenesis.

Suzuki T et al.

American Journal of Respiratory and Critical Care Medicine, 2014

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

Suzuki T et al.

American Journal of Respiratory and Critical Care Medicine, 2010

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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."