Literature record
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
PMID 26671912 | PMCID PMC4898782 | DOI 10.1136/jmedgenet-2015-103476 · Journal of medical genetics · 2016 · View on PubMed ↗
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WNT1 | “Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.” | 0.98 | phenotype_alias_lexicon_v2 |