Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C633Splc
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ATM

NM_000051.4:p.C633Splc

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

Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.

Calvello M et al.

Genes, 2023

37239438 (PubMed )
Supplement: genes-14-01077-s001.zip › Table_S3.pdf

Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

Bueno-Martínez E et al.

The Journal of Pathology, 2022

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