Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.W78*
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PTCH1

NM_000264.5:p.W78*

Associated Papers

GDC-0449 suppresses odontogenic keratocyst aggressiveness in fibroblasts by upregulating SPARC via Hedgehog pathway inhibition.

Qu J et al.

Archives of Oral Biology, 2025

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY et al.

Plos One, 2013

Role of highly conserved residues in the reaction catalyzed by recombinant Delta7-sterol-C5(6)-desaturase studied by site-directed mutagenesis.

Taton M et al.

Biochemistry, 2000

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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."