Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E784*
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PTCH1

NM_000264.5:p.E784*

Associated Papers

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Steiner CE et al.

Genes, 2025

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM2_ESM.xlsx › Clinical_data
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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."