Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Trp515Leu (p.W515L)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Myeloproliferative disease
- Source Database
- DisGeNET
- Description
- To investigate its prevalence in Chinese patients with MPD, we introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen MPL W515L and JAK2 V617F mutations in 190 MPD patients.
- Pubmed
- 18464114
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0366335162974183
- Year of publication
- 2008
Drugs