Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.E413K
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BLM

NM_000057.4:p.E413K

Associated Papers

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table3.XLSX › BLM_germline_VUS

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_missense_SNP

Multiparametric liquid biopsy analysis in metastatic prostate cancer.

Hodara E et al.

Jci Insight, 2019

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Raskin L et al.

Oncotarget, 2017

29212164 (PubMed )
Supplement: oncotarget-08-93450-s002.xlsx › Sup.Table1-All_rare_variants

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC et al.

Blood, 2013

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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."