Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.M439V
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BLM

NM_000057.4:p.M439V

Associated Papers

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

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

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

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
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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."