Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D2597Y
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ATM

NM_000051.4:p.D2597Y

Associated Papers

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles-Fernández A et al.

Frontiers in Genetics, 2018

30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_7

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

27073839 (PubMed )
Supplement: pone.0152725.s003.xlsx › Sheet1

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

Paglia LL et al.

Breast Cancer Research and Treatment, 2010

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