Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.R175L
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PTCH2

NM_003738.5:p.R175L

Associated Papers

Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Kim J et al.

Frontiers in Oncology, 2022

35774130 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet2

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

Onodera S et al.

Plos One, 2017

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.

Morita K et al.

Plos One, 2015

Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features.

Shimada Y et al.

Plos One, 2013

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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."