Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.P275L
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RUNX1

NM_001754.5:p.P275L

Associated Papers

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Li Y et al.

The Journal of Clinical Investigation, 2021

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Wu D et al.

Haematologica, 2020

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Luo X et al.

Blood Advances, 2019

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Ji J et al.

Cancer Genetics, 2019

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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."