Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.H218_S219insG
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PAX9

NM_001372076.1:p.H218_S219insG

Associated Papers

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

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

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

A review on non-syndromic tooth agenesis associated with PAX9 mutations.

Fauzi NH et al.

The Japanese Dental Science Review, 2018

A novel initiation codon mutation of PAX9 in a family with oligodontia.

Liang J et al.

Archives of Oral Biology, 2016

Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.

Wang SK et al.

Plos One, 2012

A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

Jumlongras D et al.

Human Genetics, 2004

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