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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

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References
1.
Bellissimo D, Speck N . Mutations in Inherited and Sporadic Leukemia. Front Cell Dev Biol. 2018; 5:111. PMC: 5742424. DOI: 10.3389/fcell.2017.00111. View

2.
Brown A, Hahn C, Scott H . Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). Blood. 2020; 136(1):24-35. PMC: 7332898. DOI: 10.1182/blood.2019000937. View

3.
Zhou X, Edmonson M, Wilkinson M, Patel A, Wu G, Liu Y . Exploring genomic alteration in pediatric cancer using ProteinPaint. Nat Genet. 2015; 48(1):4-6. PMC: 4892362. DOI: 10.1038/ng.3466. View

4.
Li M, Datto M, Duncavage E, Kulkarni S, Lindeman N, Roy S . Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2016; 19(1):4-23. PMC: 5707196. DOI: 10.1016/j.jmoldx.2016.10.002. View

5.
Luo X, Feurstein S, Mohan S, Porter C, Jackson S, Keel S . ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019; 3(20):2962-2979. PMC: 6849945. DOI: 10.1182/bloodadvances.2019000644. View