Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.Y38fs
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SUFU

NM_016169.4:p.Y38fs

Associated Papers

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Klein SD et al.

American Journal of Medical Genetics. Part A, 2019

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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."