Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S547S
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PTCH1

NM_000264.5:p.S547S

Associated Papers

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Gotoh O et al.

Nature Communications, 2019

31672974 (PubMed )
Supplement: 41467_2019_12985_MOESM8_ESM.xlsx › Suppl_Data_5

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Musani V et al.

Croatian Medical Journal, 2018

Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related Metastases.

Harms KL et al.

Jama Dermatology, 2017

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele.

Musani V et al.

Gene, 2013

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

Slade I et al.

Familial Cancer, 2011

Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.

Xu X et al.

Vox Sanguinis, 2009

Analysis of the PTCH coding region in human rhabdomyosarcoma.

Calzada-Wack J et al.

Human Mutation, 2002

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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."