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A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.

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Title: A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.
Authors: Khorrami M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir., Khorram E; Applied Physiology Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.; Cancer Prevention Research Center, Seyyed Al-Shohada Hospital, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir., Yaghini O; Research Institute for Primordial Prevention of Non-Communicable Disease, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.; Department of Child Neurology, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir., Iravani O; Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran, lmo.ir., Kheirollahi A; Geneazma Medical Genetics Laboratory, West Shariati St., Isfahan, Iran.; Department of Biology, Islamic Azad University, Falavarjan Branch, Isfahan, Iran, srbiau.ac.ir., Kheirollahi M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.; Geneazma Medical Genetics Laboratory, West Shariati St., Isfahan, Iran., Yazdani V; Geneazma Medical Genetics Laboratory, West Shariati St., Isfahan, Iran.; Department of Biology, Islamic Azad University East Tehran Branch, Tehran, Iran, srbiau.ac.ir., Pakbaz M; Islamic Azad University, Flavarjan Branch, Flavarjan, Isfahan, Iran, srbiau.ac.ir.
Source: Genetics research [Genet Res (Camb)] 2025 Dec 25; Vol. 2025, pp. 7396691. Date of Electronic Publication: 2025 Dec 25 (Print Publication: 2025).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 101550220 Publication Model: eCollection Cited Medium: Internet ISSN: 1469-5073 (Electronic) Linking ISSN: 00166723 NLM ISO Abbreviation: Genet Res (Camb) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.
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  Data: <searchLink fieldCode="AU" term="%22Khorrami+M%22">Khorrami M</searchLink>; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.<br /><searchLink fieldCode="AU" term="%22Khorram+E%22">Khorram E</searchLink>; Applied Physiology Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.; Cancer Prevention Research Center, Seyyed Al-Shohada Hospital, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.<br /><searchLink fieldCode="AU" term="%22Tabatabaiefar+MA%22">Tabatabaiefar MA</searchLink>; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.<br /><searchLink fieldCode="AU" term="%22Yaghini+O%22">Yaghini O</searchLink>; Research Institute for Primordial Prevention of Non-Communicable Disease, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.; Department of Child Neurology, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.<br /><searchLink fieldCode="AU" term="%22Iravani+O%22">Iravani O</searchLink>; Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran, lmo.ir.<br /><searchLink fieldCode="AU" term="%22Kheirollahi+A%22">Kheirollahi A</searchLink>; Geneazma Medical Genetics Laboratory, West Shariati St., Isfahan, Iran.; Department of Biology, Islamic Azad University, Falavarjan Branch, Isfahan, Iran, srbiau.ac.ir.<br /><searchLink fieldCode="AU" term="%22Kheirollahi+M%22">Kheirollahi M</searchLink>; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.; Geneazma Medical Genetics Laboratory, West Shariati St., Isfahan, Iran.<br /><searchLink fieldCode="AU" term="%22Yazdani+V%22">Yazdani V</searchLink>; Geneazma Medical Genetics Laboratory, West Shariati St., Isfahan, Iran.; Department of Biology, Islamic Azad University East Tehran Branch, Tehran, Iran, srbiau.ac.ir.<br /><searchLink fieldCode="AU" term="%22Pakbaz+M%22">Pakbaz M</searchLink>; Islamic Azad University, Flavarjan Branch, Flavarjan, Isfahan, Iran, srbiau.ac.ir.
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  Data: <searchLink fieldCode="JN" term="%22101550220%22">Genetics research</searchLink> [Genet Res (Camb)] 2025 Dec 25; Vol. 2025, pp. 7396691. <i>Date of Electronic Publication: </i>2025 Dec 25 (<i>Print Publication: </i>2025).
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              Text: 2025 Dec 25
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