Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R1580C
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SETX

NM_015046.7:p.R1580C

Associated Papers

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.

Nguyen KV et al.

Nucleosides, Nucleotides & Nucleic Acids, 2017

Truncating mutations in APP cause a distinct neurological phenotype.

Klein S et al.

Annals of Neurology, 2016

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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."