Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.D429fs
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PTCH1

NM_000264.5:p.D429fs

Associated Papers

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

Unique features of PTCH1 mutation spectrum in Chinese sporadic basal cell carcinoma.

Huang YS et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 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."