Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L5delFs
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ATM

NM_000051.4:p.L5delFs

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

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU638

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.

Sommer SS et al.

Cancer Genetics and Cytogenetics, 2002

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

Barker DF et al.

American Journal of Medical Genetics, 2001

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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."