Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.T1034T
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BLM

NM_000057.4:p.T1034T

Associated Papers

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM3_ESM.xlsx › Common.Cosmic_Mut

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Homologous Recombination in Thyroid Tumor Samples.

Spirina LV et al.

International Journal of Molecular Sciences, 2025

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU638

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC35

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Alzahrani FA et al.

Scientific Reports, 2020

32704157 (PubMed )
Supplement: 41598_2020_69033_MOESM4_ESM.xlsx › cds_synonymous_SNP

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.

Montenegro MM et al.

Molecular Genetics & Genomic Medicine, 2020

A pan-cancer analysis of synonymous mutations.

Sharma Y et al.

Nature Communications, 2019

31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › all_gene_variants

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

Sokolenko AP et al.

International Journal of Cancer, 2012

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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."