Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.A558A
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PTCH1

NM_000264.5:p.A558A

Associated Papers

Genetic landscape and ligand-dependent activation of sonic hedgehog-Gli1 signaling in chordomas: a novel therapeutic target.

Yang C et al.

Oncogene, 2020

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.

Fujii K et al.

Human Mutation, 2003

Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.

Hasenpusch-Theil K et al.

Human Mutation, 1998

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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."