Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S1360S
Back to variants list

PTCH1

NM_000264.5:p.S1360S

Associated Papers

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

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

Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome.

Pirini F et al.

International Journal of Colorectal Disease, 2019

[Association of genetic polymorphisms in HjV-BMPs-SMADs pathway of hepcidin regulation with the incidence of anemia in Chinese adolescent aged 12 -18 years old].

Piao W et al.

Wei Sheng Yan Jiu = Journal of Hygiene Research, 2016

Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.

Wang Z et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013

Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.

Wang Z et al.

International Journal of Clinical and Experimental Medicine, 2013

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

Slade I et al.

Familial Cancer, 2011

Analysis of the PTCH coding region in human rhabdomyosarcoma.

Calzada-Wack J et al.

Human Mutation, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."