Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q417fs
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PTCH1

NM_000264.5:p.Q417fs

Associated Papers

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Durmaz CD et al.

Cytogenetic and Genome Research, 2018

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."