Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.P311L
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SETX

NM_015046.7:p.P311L

Associated Papers

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Chen S et al.

Frontiers in Molecular Neuroscience, 2022

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Arning L et al.

Neurogenetics, 2013

Investigation of recessive ataxia loci in patients with young age of onset.

Zühlke C et al.

Neuropediatrics, 2007

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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."