Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V60L
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ATM

NM_000051.4:p.V60L

Associated Papers

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_5.xlsx › Sheet1

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Vergani E et al.

Genes, 2021

The Melanocortin 1 receptor and its influence on naevi and melanoma in dark-skinned phenotypes.

Smith DJM

The Australasian Journal of Dermatology, 2019

Melanoma genetics.

Read J et al.

Journal of Medical Genetics, 2016

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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."