Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.W79*
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RUNX1

NM_001001890.3:p.W79*

Associated Papers

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases.

Choi SJ et al.

Blood Advances, 2024

38359363 (PubMed )
Supplement: BLOODA_ADV-2023-011572-mmc1.xlsx › Supplementary_Table_4

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.

Erlacher M et al.

Haematologica, 2024

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts

Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms.

DiFilippo EC et al.

Leukemia, 2020

Gene of the issue: RUNX1 mutations and inherited bleeding.

Morgan NV et al.

Platelets, 2017

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B et al.

Haematologica, 2016

Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

Tsai SC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

Stockley J et al.

Blood, 2013

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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."