Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1054H
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ATM

NM_000051.4:p.P1054H

Associated Papers

Genetic Background of Macular Telangiectasia Type 2.

Kunčič A et al.

International Journal of Molecular Sciences, 2025

39859398 (PubMed )
Supplement: ijms-26-00684-s001.zip › 20241229_Table_S1.pdf

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM1_ESM.pdf

Risk factors for clonal hematopoiesis of indeterminate potential and mosaic chromosomal alterations.

Jakubek YA et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2023

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
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