Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.A114G
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SMN1

NM_000344.4:p.A114G

Associated Papers

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.

Ganetzky R et al.

American Journal of Medical Genetics. Part A, 2015

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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."