Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.S1028L
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ASXL1

NM_015338.6:p.S1028L

Associated Papers

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.

Rosenthal SH et al.

Plos One, 2021

33909614 (PubMed )
Supplement: pone.0243683.s002.xlsx › S2

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

24185512 (PubMed )
Supplement: NIHMS531250-supplement-2.xlsx › All_samples_N_36_
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