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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMN2

Variant:p.H291H

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SMN2

NM_017411.4:p.H291H

hg38:chr5:70076559 T>C

Associated Papers

Regulation of SMN protein stability.

Burnett BG et al.

Molecular and Cellular Biology, 2009

19103745 (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."