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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSF

Variant:p.G136S

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ARSF

NM_001201539.2:p.G136S

hg38:chrX:3081013 G>A

Associated Papers

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

Bertolacini CD et al.

Brain & Development, 2010

19398181 (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."