Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.W1018*
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PTCH1

NM_000264.5:p.W1018*

Associated Papers

Molecular alterations in basal cell carcinoma subtypes.

Di Nardo L et al.

Scientific Reports, 2021

34168209 (PubMed )
Supplement: 41598_2021_92592_MOESM3_ESM.xlsx › Foglio1

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

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

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

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2

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

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.

Soufir N et al.

British Journal of Cancer, 2006

Bronchoalveolar Lavage as Potential Diagnostic Specimens to Genetic Testing in Advanced Nonsmall Cell Lung Cancer.

Lin X et al.

Technology in Cancer Research & Treatment, 0

37743841 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338231202881.xlsx › Table_S4
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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."