Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RA
Variant:p.R199*
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CSF2RA

NM_172245.4:p.R199*

Associated Papers

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

Jinson S et al.

Pediatric Pulmonology, 2025

Alveolar proteinosis of genetic origins.

Hadchouel A et al.

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

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Hildebrandt J et al.

Orphanet Journal of Rare Diseases, 2014

Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis.

Lachmann N et al.

American Journal of Respiratory and Critical Care Medicine, 2014

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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."