Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R989fs
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SETX

NM_015046.7:p.R989fs

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

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL et al.

Scientific Reports, 2017

29127364 (PubMed )
Supplement: 41598_2017_15127_MOESM1_ESM.doc
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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."