Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.

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Title: Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
Authors: Xu, Xuebi1 (AUTHOR) xxb7223@163.com, Xia, Junhui1 (AUTHOR) xiajunhuiwmu@163.com, Xu, Fei2 (AUTHOR) xufei13868825166@126.com, Wang, Mingshan2 (AUTHOR) wywms@126.com, Yang, Lihong2 (AUTHOR) YLH91@163.com, Chen, Xiaoli1 (AUTHOR) CXXLLL@126.com
Source: Orphanet Journal of Rare Diseases. 8/18/2025, Vol. 20 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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An: 187385291
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  Data: Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
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  Data: <searchLink fieldCode="AR" term="%22Xu%2C+Xuebi%22">Xu, Xuebi</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> xxb7223@163.com</i><br /><searchLink fieldCode="AR" term="%22Xia%2C+Junhui%22">Xia, Junhui</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> xiajunhuiwmu@163.com</i><br /><searchLink fieldCode="AR" term="%22Xu%2C+Fei%22">Xu, Fei</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> xufei13868825166@126.com</i><br /><searchLink fieldCode="AR" term="%22Wang%2C+Mingshan%22">Wang, Mingshan</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> wywms@126.com</i><br /><searchLink fieldCode="AR" term="%22Yang%2C+Lihong%22">Yang, Lihong</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> YLH91@163.com</i><br /><searchLink fieldCode="AR" term="%22Chen%2C+Xiaoli%22">Chen, Xiaoli</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> CXXLLL@126.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 8/18/2025, Vol. 20 Issue 1, p1-13. 13p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187385291
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13023-025-03962-3
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      – Code: eng
        Text: English
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        PageCount: 13
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      – TitleFull: Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
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            NameFull: Xu, Xuebi
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            NameFull: Xia, Junhui
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            NameFull: Xu, Fei
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            NameFull: Wang, Mingshan
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            NameFull: Yang, Lihong
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            NameFull: Chen, Xiaoli
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            – D: 18
              M: 08
              Text: 8/18/2025
              Type: published
              Y: 2025
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            – TitleFull: Orphanet Journal of Rare Diseases
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