Annotation Detail
Information
- Associated Genes
- MRTFA
- Associated Variants
-
MRTFA MUTATION
MRTFA MUTATION - Associated Disease
- Immunologic Deficiency Syndromes
- Source Database
- DisGeNET
- Description
- In this issue of Blood, Record et al report a novel human primary neutrophil immunodeficiency disorder caused by megakaryoblastic leukemia 1 (MKL1) mutation.
- Pubmed
- 26405212
- Section of the abstract supporting the evidence
- ALL_TEXT
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs