Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G301Splc
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ATM

NM_000051.4:p.G301Splc

Associated Papers

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Sumazin P et al.

Journal of Hepatology, 2022

35577029 (PubMed )
Supplement: mmc5.xlsx › Mutations

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Toone JR et al.

Molecular Genetics and Metabolism, 2003

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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."