Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.R402Q
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ASXL1

NM_015338.6:p.R402Q

Associated Papers

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV

Gene and pathway based burden analyses in familial lymphoid cancer cases: Rare variants in immune pathway genes.

Ralli S et al.

Plos One, 2023

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

Germline mutations and blood malignancy (Review).

Gong Y et al.

Oncology Reports, 2021

Chronic mast cell leukaemia with exon 9 KIT mutation A502_Y503dup: a rare imatinib responsive variant.

Manthri S et al.

Bmj Case Reports, 2020

SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma.

Kolin DL et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Familial hematological malignancies: ASXL1 gene investigation.

Hamadou WS et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2016

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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