Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.C730*
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ASXL1

NM_015338.6:p.C730*

Associated Papers

Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Miller PG et al.

Blood, 2022

34855941 (PubMed )
Supplement: 10.1182-2021013531_bloodbld2021013531-suppl1.pdf

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

Gelsi-Boyer V et al.

Journal of Hematology & Oncology, 2012

Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes.

Stein BL et al.

Haematologica, 2011

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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."