Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T1685T
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ATM

NM_000051.4:p.T1685T

Associated Papers

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Chen Q et al.

Bmc Medical Genomics, 2025

41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
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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."