Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q84*
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PTCH1

NM_000264.5:p.Q84*

Associated Papers

Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans.

Kim YA et al.

International Journal of Molecular Sciences, 2025

European Association of Neuro-Oncology guideline on molecular testing of meningiomas for targeted therapy selection.

Sahm F et al.

Neuro-oncology, 2025

39577862 (PubMed )
Supplement: noae253_suppl_supplementary_materials.docx

Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

Zhu F et al.

The Journal of International Medical Research, 2024

39053449 (PubMed )
Supplement: sj-xlsx-3-imr-10.1177_03000605241258171.xlsx › Table_S3

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

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

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

Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.

Stojanov IJ et al.

The American Journal of Surgical Pathology, 2020

Principles of tumorigenesis and emerging molecular drivers of SHH-activated medulloblastomas.

Menyhárt O et al.

Annals of Clinical and Translational Neurology, 2019

Genetic landscape of meningioma.

Yuzawa S et al.

Brain Tumor Pathology, 2016

Large-scale identification of chemically induced mutations in Drosophila melanogaster.

Haelterman NA et al.

Genome Research, 2014

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY et al.

Plos One, 2013

24204797 (PubMed )
Supplement: pone.0077305.s001.docx

MCAD deficiency in Denmark.

Andresen BS et al.

Molecular Genetics and Metabolism, 2012

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Savino M et al.

Human Mutation, 2004

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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."