Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.L148_I150delFs
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RUNX1

NM_001001890.3:p.L148_I150delFs

Associated Papers

Dysmegakaryopoiesis, a clue for an early diagnosis of familial platelet disorder with propensity to acute myeloid leukemia in case of unexplained inherited thrombocytopenia associated with normal-sized platelets.

Latger-Cannard V et al.

Journal of Pediatric Hematology/oncology, 2011

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M et al.

European Journal of Human Genetics : Ejhg, 2008

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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."