Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.G647V
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CSF2RB

NM_000395.3:p.G647V

Associated Papers

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.

Denson LA et al.

Inflammatory Bowel Diseases, 2019

Discovery and functional characterization of a germline, CSF2RB-activating mutation in leukemia.

Watanabe-Smith K et al.

Leukemia, 2016

27118405 (PubMed )
Supplement: NIHMS777047-supplement-1.pdf
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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."