Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H1443Y
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ATM

NM_000051.4:p.H1443Y

Associated Papers

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › BRCA1

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

George SHL et al.

Jama Network Open, 2021

33646313 (PubMed )
Supplement: jamanetwopen-e210307-s001.pdf

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

Nones K et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019

31090900 (PubMed )
Supplement: EMS83580-supplement-Supplementary_Data.zip › Suppl_Table1_Clinical_78_Final.xlsx › Sheet1

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Jara L et al.

Biological Research, 2017

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Laraqui A et al.

Disease Markers, 2015

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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."