Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Y1021C
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PTCH1

NM_000264.5:p.Y1021C

Associated Papers

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma.

Sitthirak S et al.

Scientific Reports, 2025

40157958 (PubMed )
Supplement: 41598_2025_95142_MOESM17_ESM.xlsx › Sheet1

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

Molecular evidence of type 2 mosaicism in Gorlin syndrome.

Torrelo A et al.

The British Journal of Dermatology, 2013

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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."