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Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

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Title: Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Authors: Xie, Yaojun1,2 (AUTHOR), Li, Keyi3 (AUTHOR), Yang, Li4 (AUTHOR), Zeng, Xiaofei3 (AUTHOR), Chen, Zhehui5 (AUTHOR), Ma, Xue5 (AUTHOR), Zhang, Luyi3 (AUTHOR), Zhou, Yuwei3 (AUTHOR), Jin, Liqin6 (AUTHOR) liqinjin@126.com, Yang, Yanling5 (AUTHOR) organic.acid@126.com, Lou, Xiaoting1,3 (AUTHOR) xiaoting_lou@163.com
Source: Orphanet Journal of Rare Diseases. 12/24/2024, Vol. 19 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 181861166
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  Data: Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
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  Data: <searchLink fieldCode="AR" term="%22Xie%2C+Yaojun%22">Xie, Yaojun</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Keyi%22">Li, Keyi</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yang%2C+Li%22">Yang, Li</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zeng%2C+Xiaofei%22">Zeng, Xiaofei</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Zhehui%22">Chen, Zhehui</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ma%2C+Xue%22">Ma, Xue</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Luyi%22">Zhang, Luyi</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhou%2C+Yuwei%22">Zhou, Yuwei</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jin%2C+Liqin%22">Jin, Liqin</searchLink><relatesTo>6</relatesTo> (AUTHOR)<i> liqinjin@126.com</i><br /><searchLink fieldCode="AR" term="%22Yang%2C+Yanling%22">Yang, Yanling</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> organic.acid@126.com</i><br /><searchLink fieldCode="AR" term="%22Lou%2C+Xiaoting%22">Lou, Xiaoting</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<i> xiaoting_lou@163.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 12/24/2024, Vol. 19 Issue 1, p1-13. 13p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=181861166
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13023-024-03469-3
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        Text: English
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            – D: 24
              M: 12
              Text: 12/24/2024
              Type: published
              Y: 2024
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