Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.K219_C221delFs
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RAD50

NM_005732.4:p.K219_C221delFs

Associated Papers

Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.

Takagi M et al.

Journal of Clinical Immunology, 2023

Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies.

Filipiuk A et al.

Annals of Agricultural and Environmental Medicine : Aaem, 2022

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Habib R et al.

Aging, 2020

DNA damage response and hematological malignancy.

Takagi M

International Journal of Hematology, 2017

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.

Pastorczak A et al.

European Journal of Medical Genetics, 2016

The spectrum of genetic mutations in breast cancer.

Sheikh A et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.

Krenzlin H et al.

Plos Genetics, 2012

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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."