Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G392G
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ATM

NM_000051.4:p.G392G

Associated Papers

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2024

39317201 (PubMed )
Supplement: mmc4.xlsx › Table_S4

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST7-ATM

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.

Ho AY et al.

International Journal of Radiation Oncology, Biology, Physics, 2007

A genetically determined dose-volume histogram predicts for rectal bleeding among patients treated with prostate brachytherapy.

Cesaretti JA et al.

International Journal of Radiation Oncology, Biology, Physics, 2007

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer.

Cesaretti JA et al.

International Journal of Radiation Oncology, Biology, Physics, 2005

Absence of somatic ATM missense mutations in 58 mammary carcinomas.

Feng J et al.

Cancer Genetics and Cytogenetics, 2003

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N et al.

Human Molecular Genetics, 1999

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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."