Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L506R
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PTCH1

NM_000264.5:p.L506R

Associated Papers

Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel.

Hideshima I et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 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

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Savino M et al.

Human Mutation, 2004

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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."