Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Trp515Lys (p.W515K)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Lys (p.W515K) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis.
- Pubmed
- 23872309
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0514070483465319
- Year of publication
- 2014
Drugs