Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.S271L
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CSF2RB

NM_000395.3:p.S271L

Associated Papers

CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.

Papiris SA et al.

Erj Open Research, 2023

Alveolar proteinosis of genetic origins.

Hadchouel A et al.

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

Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations.

Suzuki T et al.

The European Respiratory Journal, 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."