Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.R678fs
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ASXL1

NM_015338.6:p.R678fs

Associated Papers

Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.

Russell BE et al.

American Journal of Medical Genetics. Part A, 2023

Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia.

Wang F et al.

Nature Communications, 2021

33972549 (PubMed )
Supplement: 41467_2021_22874_MOESM4_ESM.xlsx › Supplementary_Data_3

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Zhao W et al.

Frontiers in Pediatrics, 2021

A de novo truncating mutation in ASXL1 associated with segmental overgrowth.

Efthymiou S et al.

Journal of Genetics, 2019

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone
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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."