Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.R47P
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PAX9

NM_001372076.1:p.R47P

Associated Papers

Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.

Guo X et al.

International Dental Journal, 2025

Tooth agenesis patterns and variants in PAX9: A systematic review.

Intarak N et al.

The Japanese Dental Science Review, 2023

37159578 (PubMed )
Supplement: mmc1.docx

The phenotype and genotype of PAX9 mutations causing tooth agenesis.

Jiang C et al.

Clinical Oral Investigations, 2023

Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia.

Ren J et al.

Frontiers in Genetics, 2023

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns.

Liu H et al.

International Journal of Molecular Sciences, 2022

35897718 (PubMed )
Supplement: ijms-23-08142-s001.zip › ijms-1830351-supplementary.pdf

The clinical significance and correlative signaling pathways of paired box gene 9 in development and carcinogenesis.

Bhol CS et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2021

A novel PAX9 mutation found in a Chinese patient with hypodontia via whole exome sequencing.

Zhang T et al.

Oral Diseases, 2019

Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype.

Wong SW et al.

Journal of Dental Research, 2018

Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis.

Murakami A et al.

Plos One, 2017

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.

Haddaji Mastouri M et al.

Archives of Oral Biology, 2016

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Arte S 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."