Varaico: Literature-Extracted Genetic Variants

Gene:BCORL1
Variant:p.A157T
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BCORL1

NM_001379451.1:p.A157T

Associated Papers

Molecular classification and outcomes in pediatric aplastic anemia with myeloid neoplasm-associated gene variants.

Li D et al.

Frontiers in Pediatrics, 2025

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E et al.

Human Molecular Genetics, 2019

31039582 (PubMed )
Supplement: hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx › Supplementary_table

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

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM3_ESM.xlsx › supplementary_3_filtered

FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Shi E et al.

Journal of Translational Medicine, 2016

27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM3_ESM.xlsx › Table_S7

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613703_njcnpj.xlsx › Mutation_List_TN
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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."