Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.Q136*
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PAX9

NM_001372076.1:p.Q136*

Associated Papers

A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.

Jin Z et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2024

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

37056289 (PubMed )
Supplement: Table1.XLSX › Sheet1

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Biedziak B et al.

Journal of Clinical Medicine, 2022

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

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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