Varaico: Literature-Extracted Genetic Variants

Gene:TNR
Variant:p.R492delFs
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TNR

NM_003285.3:p.R492delFs

Associated Papers

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.

Wagner M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS et al.

Brain : a Journal of Neurology, 2017

28334938 (PubMed )
Supplement: awx045_Supp.zip › brain-2016-01749-File006.pdf
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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."