Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Y820*
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PTCH1

NM_000264.5:p.Y820*

Associated Papers

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type

Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome.

Reinders MGHC et al.

The British Journal of Dermatology, 2019

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

Huq AJ et al.

Internal Medicine Journal, 2017

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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."