Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.R719Q
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PTCH2

NM_003738.5:p.R719Q

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

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

Smith MJ et al.

Familial Cancer, 2022

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi M et al.

Human Genome Variation, 2019

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Fujii K et al.

Familial Cancer, 2013

A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

Fan Z et al.

Journal of Medical Genetics, 2008

Basal cell nevus syndrome: From DNA to therapeutics.

Lin MJ et al.

Clinics in Dermatology, 0

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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."