Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R1319H
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PTCH1

NM_000264.5:p.R1319H

Associated Papers

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Hu B et al.

Frontiers in Oncology, 2021

34434896 (PubMed )
Supplement: DataSheet_5.xlsx › All.final.xls.sed

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria.

Seidenari S et al.

Clinical Genetics, 2013

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY et al.

Plos One, 2013

24204797 (PubMed )
Supplement: pone.0077305.s001.docx

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Takahashi C et al.

Journal of Human Genetics, 2009

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

Matsuzawa N et al.

Journal of Clinical Pathology, 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."