Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.A363T
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BLM

NM_000057.4:p.A363T

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap.

Gu J et al.

Nature Biotechnology, 2025

39375448 (PubMed )
Supplement: 41587_2024_2386_MOESM5_ESM.xlsx › Chemo_IR_FDR_LFC_KStest

CRISPRmap: Sequencing-free optical pooled screens mapping multi-omic phenotypes in cells and tissue.

Gu J et al.

Biorxiv : the Preprint Server for Biology, 2023

38234835 (PubMed )
Supplement: media-5.xlsx › ClinVar_update_Dec2023

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
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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."