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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WFS1

Variant:p.L829_L833del0

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WFS1

NM_006005.3:p.L829_L833del0

hg38:chr4:6302279 CCTGGAGGGCCGCCTG>C

Associated Papers

Severe orthostatic dysregulation associated with Wolfram syndrome.

Synofzik M et al.

Journal of Neurology, 2010

20490821 (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."