Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K2756_V2757Splc
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ATM

NM_000051.4:p.K2756_V2757Splc

Associated Papers

Prostate-Related Germline Variant Frequencies Detected in a Cohort of Men With Metastatic Prostate Cancer in Northern India.

Batra A et al.

Jco Precision Oncology, 2025

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2024

39317201 (PubMed )
Supplement: mmc4.xlsx › Table_S4

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST7-ATM

Rare occurrence of pseudomyxoma peritonei (PMP) syndrome arising from a malignant transformed ovarian primary mature cystic teratoma treated by cytoreductive surgery and HIPEC: a case report.

Ponzini F et al.

World Journal of Surgical Oncology, 2022

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