spinal muscular atrophy phenotype
Evidence from:
primary |
all sources
No related entities found.
Mentioned in (9)
Papers in which this entity is mentioned.
- Towards understandings of serine/arginine-rich splicing factors. (2023)
- RNA splicing dysregulation and the hallmarks of cancer. (2023)
- Explainable multiview framework for dissecting spatial relationships from highly multiplexed data. (2022)
- The Cancer Spliceome: Reprograming of Alternative Splicing in Cancer. (2018)
- Exon identity crisis: disease-causing mutations that disrupt the splicing code. (2014)
- Ewing sarcoma protein: a key player in human cancer. (2013)
- RNA splicing: a new player in the DNA damage response. (2013)
- Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
- Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. (2009)
Merged raw entities (2)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| spinal muscular atrophy | phenotype | 13 | 22 |
| sma | phenotype | 6 | 9 |