Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S733S
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PTCH1

NM_000264.5:p.S733S

Associated Papers

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

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

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

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

Slade I et al.

Familial Cancer, 2011

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

Stefanius K et al.

Virchows Archiv : an International Journal of Pathology, 2011

Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

Lo Muzio L

Orphanet Journal of Rare Diseases, 2008

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS et al.

Journal of Dental Research, 2008

18502968 (PubMed )
Supplement: 575-070403apx.pdf
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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."