Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.E395*
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OFD1

NM_003611.3:p.E395*

Associated Papers

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

Saitsu H et al.

Annals of Clinical and Translational Neurology, 2016

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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."