Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.P1116L
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PTCH2

NM_003738.5:p.P1116L

Associated Papers

Gorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.

Garcia-Garcia M et al.

The American Journal of Dermatopathology, 2024

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.

Onodera S et al.

International Journal of Molecular Sciences, 2023

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.

Smith MJ et al.

Familial Cancer, 2022

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Casano K et al.

European Journal of Medical Genetics, 2020

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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."