Varaico: Literature-Extracted Genetic Variants

Gene:RAD51
Variant:p.Q242R
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RAD51

NM_002875.5:p.Q242R

Associated Papers

RAD51-Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.

Altintas B et al.

Clinical Genetics, 2025

Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities.

Liu S et al.

The Journal of Biological Chemistry, 2023

A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.

Geilmann S et al.

Clinical Case Reports, 2023

A Japanese patient with RAD51-associated Fanconi anemia.

Takenaka S et al.

American Journal of Medical Genetics. Part A, 2019

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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."