Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.A55fs
Back to variants list

RUNX1

NM_001754.5:p.A55fs

Associated Papers

Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Ernst MPT et al.

Hemasphere, 2025

39822584 (PubMed )
Supplement: HEM3-9-e70057-s001.xlsx › Sheet1

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."