Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S601N
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ATM

NM_000051.4:p.S601N

Associated Papers

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

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › 0_position

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11B

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM7_ESM.xlsx › Tabelle1
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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."