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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A2

Variant:p.G292delFs

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SLC52A2

NM_001363118.2:p.G292delFs

hg38:chr8:144360367 GC>G

Associated Papers

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Guissart C et al.

European Journal of Human Genetics : Ejhg, 2016

26669662 (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."