Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L106L
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PTCH1

NM_000264.5:p.L106L

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

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

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

Musani V et al.

Gene, 2013

CTLA-4 exon 1 +49A/G polymorphism is associated with renal involvement in pediatric Henoch-Schönlein purpura.

Wang JJ et al.

Pediatric Nephrology (berlin, Germany), 2012

CTLA-4 exon 1 +49 polymorphism alone and in a haplotype with -318 promoter polymorphism may confer susceptibility to chronic HBV infection in Chinese Han patients.

Duan S et al.

Molecular Biology Reports, 2011

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

Slade I et al.

Familial Cancer, 2011

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Pastorino L et al.

Human Mutation, 2005

The impact of costimulatory molecule gene polymorphisms on clinical outcomes in liver transplantation.

Marder BA et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2003

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."