Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RA
Variant:p.S25*
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CSF2RA

NM_172245.4:p.S25*

Associated Papers

Alveolar proteinosis of genetic origins.

Hadchouel A et al.

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

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Hildebrandt J et al.

Orphanet Journal of Rare Diseases, 2014

Long-term follow-up and treatment of congenital alveolar proteinosis.

Griese M et al.

Bmc Pediatrics, 2011

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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."