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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.

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Title: Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.
Authors: Mokhtari D; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran., Jahanpanah M; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran., Jabbari N; Department of Animal Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran., Azari H; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran., Davarnia S; Tabriz University of Medical Sciences, Tabriz, Iran., Mokaber H; Department of Biology, Ardabil Branch, Islamic Azad University, Ardabil, Iran., Arish S; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran., Molatefi R; Department of Pediatrics, Bo-Ali Children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran.; Cancer Immunology and Immunotherapy Research Center, Ardabil University of Medical Sciences, Ardabil, Iran., Abbasi V; Department of Neurology, Ardabil University of Medical Sciences, Ardabil, Iran., Davarnia B; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran. b.davarnia@gmail.com.
Source: Human genome variation [Hum Genome Var] 2024 Aug 30; Vol. 11 (1), pp. 35. Date of Electronic Publication: 2024 Aug 30.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101652445 Publication Model: Electronic Cited Medium: Print ISSN: 2054-345X (Print) Linking ISSN: 2054345X NLM ISO Abbreviation: Hum Genome Var Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.
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  Data: <searchLink fieldCode="AU" term="%22Mokhtari+D%22">Mokhtari D</searchLink>; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Jahanpanah+M%22">Jahanpanah M</searchLink>; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Jabbari+N%22">Jabbari N</searchLink>; Department of Animal Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran.<br /><searchLink fieldCode="AU" term="%22Azari+H%22">Azari H</searchLink>; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Davarnia+S%22">Davarnia S</searchLink>; Tabriz University of Medical Sciences, Tabriz, Iran.<br /><searchLink fieldCode="AU" term="%22Mokaber+H%22">Mokaber H</searchLink>; Department of Biology, Ardabil Branch, Islamic Azad University, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Arish+S%22">Arish S</searchLink>; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Molatefi+R%22">Molatefi R</searchLink>; Department of Pediatrics, Bo-Ali Children's Hospital of Ardabil University of Medical Sciences, Ardabil, Iran.; Cancer Immunology and Immunotherapy Research Center, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Abbasi+V%22">Abbasi V</searchLink>; Department of Neurology, Ardabil University of Medical Sciences, Ardabil, Iran.<br /><searchLink fieldCode="AU" term="%22Davarnia+B%22">Davarnia B</searchLink>; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran. b.davarnia@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%22101652445%22">Human genome variation</searchLink> [Hum Genome Var] 2024 Aug 30; Vol. 11 (1), pp. 35. <i>Date of Electronic Publication: </i>2024 Aug 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101652445 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2054-345X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222054345X%22">2054345X </searchLink><i>NLM ISO Abbreviation: </i>Hum Genome Var <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1038/s41439-024-00292-x
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              Text: 2024 Aug 30
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