Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E1242K
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PTCH1

NM_000264.5:p.E1242K

Associated Papers

Trichoblastic carcinosarcoma in a 34-year-old woman with histopathologic and molecular analysis, including re-demonstration of a CDKN2A p.(R58*) mutation.

Kim C et al.

Journal of Cutaneous Pathology, 2021

Longitudinal multi-gene panel assessment of circulating tumor DNA revealed tumor burden and molecular characteristics along treatment course of non-small cell lung cancer.

Ho GYF et al.

Translational Lung Cancer Research, 2020

Clinical correlation of extensive-stage small-cell lung cancer genomics.

Dowlati A et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
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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."