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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMN1

Variant:p.A114_S115insFs

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SMN1

NM_000344.4:p.A114_S115insFs

hg38:chr5:70942426 T>TG

Associated Papers

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.

Sekine SI et al.

Scientific Reports, 2019

30952898 (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."