truncating variant variant
Evidence from:
primary |
all sources
Related entities (8)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| BEX4 | associated_with | truncating variant | — | 1 |
| families | associated_with | truncating variant | — | 1 |
| truncating variant | associated_with | controls | — | 1 |
| truncating variant | risk_factor_for | mental retardation | — | 1 |
| truncating variant | associated_with | mental retardation | — | 1 |
| truncating variant | associated_with | Mkrn3 | — | 1 |
| USP9X | associated_with | truncating variant | — | 1 |
| VSIG4 | associated_with | truncating variant | — | 1 |
Mentioned in (8)
Papers in which this entity is mentioned.
- CHASMplus Reveals the Scope of Somatic Missense Mutations Driving Human Cancers. (2019)
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
- De novo variants in sporadic cases of childhood onset schizophrenia. (2016)
- Guidelines for investigating causality of sequence variants in human disease. (2014)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Central precocious puberty caused by mutations in the imprinted gene MKRN3. (2013)
- Neuronal LRP1 knockout in adult mice leads to impaired brain lipid metabolism and progressive, age-dependent synapse loss and neurodegeneration. (2010)
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (2009)
Merged raw entities (3)
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 |
|---|---|---|---|
| truncating variant | variant | 5 | 9 |
| truncating variants | variant | 4 | 4 |
| premature termination codon variants | variant | — | — |