Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.V1042_C1043ins0
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PTCH1

NM_000264.5:p.V1042_C1043ins0

Associated Papers

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

Mochizuki AY et al.

American Journal of Medical Genetics. Part A, 2024

[Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing].

Gu XM et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2006

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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."