Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.Y143C
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PAX9

NM_001372076.1:p.Y143C

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

The phenotype and genotype of PAX9 mutations causing tooth agenesis.

Jiang C et al.

Clinical Oral Investigations, 2023

An inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets.

Ranjan P et al.

International Journal of Biological Macromolecules, 2023

An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis.

Sarkar T et al.

Molecular Genetics and Genomics : Mgg, 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

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

Fauzi NH et al.

The Japanese Dental Science Review, 2018

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

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

Liang J et al.

Archives of Oral Biology, 2016

Novel PAX9 mutation associated with syndromic tooth agenesis.

Mostowska A et al.

European Journal of Oral Sciences, 2013

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

van den Boogaard MJ et al.

Journal of Medical Genetics, 2012

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B et al.

American Journal of Medical Genetics. Part A, 2011

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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."