Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.S167delFs
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RUNX1

NM_001754.5:p.S167delFs

Associated Papers

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Homan CC et al.

Haematologica, 2021

34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.

Bagla S et al.

Pediatric Hematology and Oncology, 2021

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