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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSF

Variant:p.C245insFs

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ARSF

NM_001201539.2:p.C245insFs

hg38:chrX:3084570 G>GC

Associated Papers

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.

Mendonça RH et al.

Neurology. Genetics, 2020

33062891 (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."