Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1412_D1413Splc
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ATM

NM_000051.4:p.P1412_D1413Splc

Associated Papers

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Guan B et al.

Frontiers in Oncology, 2022

35372080 (PubMed )
Supplement: Table_5.xlsx › table_S5

Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.

Rapposelli IG et al.

Bmc Cancer, 2021

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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."