Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.G279S
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SMN1

NM_000344.4:p.G279S

Associated Papers

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

Sheng-Yuan Z et al.

European Journal of Human Genetics : Ejhg, 2010

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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."