Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S974Splc
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ATM

NM_000051.4:p.S974Splc

Associated Papers

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.

Llinares-Burguet I et al.

International Journal of Molecular Sciences, 2026

Circulating Tumor DNA in Advanced EGFRex20+ NSCLC: Concordance with Tissue Biopsy, Monitoring of Response, and Resistance to High-Dose Osimertinib.

Zwierenga F et al.

Targeted Oncology, 2025

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

Privat M et al.

Human Mutation, 2024

Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.

Ozmen V et al.

Oncology Letters, 2022

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
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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."