Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1051_A1052Splc
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ATM

NM_000051.4:p.E1051_A1052Splc

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

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.

Jiang LX et al.

World Journal of Gastroenterology, 2023

Germline pathogenic variants in unselected Korean men with prostate cancer.

So MK et al.

Investigative and Clinical Urology, 2022

35534218 (PubMed )
Supplement: icu-63-294-s001.xls › Sheet1

Characterization of the Genomic Landscape in Cervical Cancer by Next Generation Sequencing.

Qiu L et al.

Genes, 2022

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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."