Literature record
Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report.
PMID 35979904 | DOI 10.1111/jpc.16162 · Journal of paediatrics and child health · 2022
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IKZF1 | “Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report.” | 0.98 | hgnc_dict_v1 |