Varaico: Literature-Extracted Genetic Variants

Gene:RPA1
Variant:p.S38N
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RPA1

NM_002945.5:p.S38N

Associated Papers

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.

Jurkute N et al.

Investigative Ophthalmology & Visual Science, 2021

Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces.

Gustafson MA et al.

Dna Repair, 2021

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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."