Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.P1196L
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PTCH1

NM_000264.5:p.P1196L

Associated Papers

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_MOESM1_ESM.pdf

Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients.

Martinez MF et al.

Cells, 2019

[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].

Mazzuoccolo LD et al.

Medicina, 2014

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