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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIX3

Variant:p.E100D

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SIX3

NM_005413.4:p.E100D

hg38:chr2:44942404 G>C

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."