Publication
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
Authors not recorded
Eur J Hum Genet2008PMID 18478040stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- cancerAcute Myeloid Leukemiacivic_curation1.00
- geneRUNX1civic_curation1.00
- variantRUNX1 T148HFSX9civic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 18478040
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| RUNX1 T148HFSX91 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID1882A 2 year old male presented with easy bruising and bleeding. At 6 years old he was diagnosed with AML. The patients mother showed mile thrombocytopenia. Sequencing of RUNX1 exons 3-6 revealed an 8 bp … (full text at CIViC) PMID 18478040 · Béri-Dexheimer et al., 2008 · Open in CIViC | civic |