Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.V751I
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ASXL1

NM_015338.6:p.V751I

Associated Papers

Allogeneic Hematopoietic Stem Cell Transplant for an Unknown Inherited Bone Marrow Failure Syndrome With a Novel Compound Heterozygous Mutation.

Okeleji O et al.

Pediatric Blood & Cancer, 2025

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Xie Z et al.

Blood, 2024

38996210 (PubMed )
Supplement: BLOOD_BLD-2024-024756-mmc1.pdf

Extreme Gradient Boosting Tuned with Metaheuristic Algorithms for Predicting Myeloid NGS Onco-Somatic Variant Pathogenicity.

Pellegrino E et al.

Bioengineering (basel, Switzerland), 2023

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s5.xlsx › TP_Polymorphisms

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 › UK10K_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."