Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E992*
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PTCH1

NM_000264.5:p.E992*

Associated Papers

Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic.

Jasmine F et al.

Cells, 2024

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

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

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

Greer WL et al.

American Journal of Human Genetics, 1999

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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."