Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G704R
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ASXL1

NM_015338.6:p.G704R

Associated Papers

The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.

Zagaria A et al.

Experimental Hematology & Oncology, 2022

36031623 (PubMed )
Supplement: 40164_2022_301_MOESM3_ESM.xlsx › Foglio1

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Fiskus W et al.

Blood Cancer Journal, 2022

35017466 (PubMed )
Supplement: 41408_2021_603_MOESM1_ESM.pdf

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Taha I et al.

Frontiers in Genetics, 2022

Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Valentini V et al.

Frontiers in Oncology, 2022

36686738 (PubMed )
Supplement: Table_3.xlsx › Foglio1

Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

Andrés-Zayas C et al.

Molecular Oncology, 2021

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Soares de Lima Y et al.

Cancers, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Myeloid malignancies-related somatic mutations in aging individuals.

Coutinho DF et al.

Molecular Genetics & Genomic Medicine, 2019

31006989 (PubMed )
Supplement: MGG3-7-e683-s002.xlsx › Somatic_mutations

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_TSG

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf
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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."