Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G134D
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ATM

NM_000051.4:p.G134D

Associated Papers

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

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34262154 (PubMed )
Supplement: 41436_2021_1240_MOESM4_ESM.xlsx › Sheet1__2_

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM12_ESM.xlsx › Sheet1
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