Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.T907M
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BLM

NM_000057.4:p.T907M

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.

Sora V et al.

Protein Science : a Publication of the Protein Society, 2023

36461907 (PubMed )
Supplement: PRO-32-e4527-s003.pdf

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM7_ESM.xlsx › Supplementary_Table_S6

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

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › 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
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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."