Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C633*
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ATM

NM_000051.4:p.C633*

Associated Papers

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

Llinares-Burguet I et al.

The Journal of Pathology, 2026

41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0002-FiguresS2S3TablesS1S3-S5.docx

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.

Privat M et al.

Human Mutation, 2024

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Graña B et al.

Breast Cancer Research and Treatment, 2011

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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."