{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Xiong HY"],"pubmed_abstract":["<b>Background:</b> <i>PAX2</i> is a nuclear transcription factor gene that is highly conserved among species. Variants within <i>PAX2</i> could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about <i>PAX2</i> variants in Chinese children. <b>Objective:</b> This study aims to further understand the clinical manifestations and genetic characteristics of <i>PAX2</i> variants in Chinese population. <b>Methods:</b> In this single-center retrospective study, we analyzed the clinical data of 10 children identified as carriers of <i>PAX2</i> variants by gene sequencing. All the variants found in this study were analyzed using <i>in silico</i> prediction and American College of Medical Genetics and Genomics (ACMG) stand"],"journal":["Frontiers in genetics"],"pagination":["799562"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9014304"],"repository":["biostudies-literature"],"pubmed_title":["Detection of <i>De Novo PAX2</i> Variants and Phenotypes in Chinese Population: A Single-Center Study."],"pmcid":["PMC9014304"],"pubmed_authors":["Zhang G","Yang H","Wang M","Zhong C","Xiong HY","Shi YQ","Chen Y","Li Q","Yang Q","Wu D"],"additional_accession":[]},"is_claimable":false,"name":"Detection of <i>De Novo PAX2</i> Variants and Phenotypes in Chinese Population: A Single-Center Study.","description":"<b>Background:</b> <i>PAX2</i> is a nuclear transcription factor gene that is highly conserved among species. Variants within <i>PAX2</i> could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about <i>PAX2</i> variants in Chinese children. <b>Objective:</b> This study aims to further understand the clinical manifestations and genetic characteristics of <i>PAX2</i> variants in Chinese population. <b>Methods:</b> In this single-center retrospective study, we analyzed the clinical data of 10 children identified as carriers of <i>PAX2</i> variants by gene sequencing. All the variants found in this study were analyzed using <i>in silico</i> prediction and American College of Medical Genetics and Genomics (ACMG) stand","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-18T22:58:57.464Z","creation":"2025-04-07T10:40:59.446Z"},"accession":"S-EPMC9014304","cross_references":{"pubmed":["35444690"],"doi":["10.3389/fgene.2022.799562"]}}