Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q816*
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PTCH1

NM_000264.5:p.Q816*

Associated Papers

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

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.

Zhao X et al.

Cancer Discovery, 2017

28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › untreated

Frequency and features of TP53 mutation in 30 Chinese patients with sporadic basal cell carcinoma.

Wang YM et al.

Clinical and Experimental Dermatology, 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."