Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R1338_R1345del0
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PTCH1

NM_000264.5:p.R1338_R1345del0

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."