Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.K271fs
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TREX1

NM_033629.6:p.K271fs

Associated Papers

Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.

Macaron G et al.

Multiple Sclerosis and Related Disorders, 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."