Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.G73_S74insFs
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PAX9

NM_001372076.1:p.G73_S74insFs

Associated Papers

Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.

Sun R et al.

Oral Diseases, 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

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

The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

Abu-Siniyeh A et al.

The Application of Clinical Genetics, 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

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.

Tallón-Walton V et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014

Novel PAX9 mutation associated with syndromic tooth agenesis.

Mostowska A et al.

European Journal of Oral Sciences, 2013

Novel missense mutation in PAX9 gene associated with familial tooth agenesis.

Boeira BR et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2013

A novel nonsense mutation in PAX9 is associated with sporadic hypodontia.

Zhu J et al.

Mutagenesis, 2012

Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family.

Wang J et al.

Archives of Oral Biology, 2011

Non-syndromic oligodontia with a novel mutation of PAX9.

Suda N et al.

Journal of Dental Research, 2011

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

Wang Y et al.

Human Molecular Genetics, 2009

A novel missense mutation in the paired domain of human PAX9 causes oligodontia.

Zhao J et al.

American Journal of Medical Genetics. Part A, 2007

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.

Hansen L et al.

European Journal of Oral Sciences, 2007

Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition.

Mostowska A et al.

European Journal of Oral Sciences, 2003

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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."