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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMN2

Variant:p.G279D

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SMN2

NM_017411.4:p.G279D

hg38:chr5:70076522 G>A

Associated Papers

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Wadman RI et al.

Brain Communications, 2020

32954327 (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."