Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.H435R
Back to variants list

SETX

NM_015046.7:p.H435R

Associated Papers

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L et al.

Orphanet Journal of Rare Diseases, 2013

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

Arning L et al.

Neurogenetics, 2013

Interpretation of genetic testing: variants of unknown significance.

Fogel BL

Continuum (minneapolis, Minn.), 2011

(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.

Iltis I et al.

Brain Research, 2010

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Airoldi G et al.

Neurogenetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."