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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.S527*

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SACS

NM_014363.6:p.S527*

hg38:chr13:23355032 G>T

Associated Papers

Genetic heterogeneity of motor neuropathies.

Bansagi B et al.

Neurology, 2017

28251916 (PubMed )

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.

Yu-Wai-Man P et al.

The British Journal of Ophthalmology, 2014

24457356 (PubMed )

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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."