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Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.

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Title: Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
Authors: Liu YD; Department of Pediatrics, Peking University First Hospital, Beijing, China., Tan DD; Department of Pediatrics, Peking University First Hospital, Beijing, China., Song DY; Department of Pediatrics, Peking University First Hospital, Beijing, China., Fan YB; Department of Pediatrics, Peking University First Hospital, Beijing, China., Fu XN; Department of Pediatrics, Peking University First Hospital, Beijing, China., Ge L; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wei W; Beijing Kangso Medical Inspection Co., Ltd., Beijing, China., Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Source: Frontiers in genetics [Front Genet] 2023 Jun 05; Vol. 14, pp. 1170089. Date of Electronic Publication: 2023 Jun 05 (Print Publication: 2023).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
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  Data: <searchLink fieldCode="AU" term="%22Liu+YD%22">Liu YD</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Tan+DD%22">Tan DD</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Song+DY%22">Song DY</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Fan+YB%22">Fan YB</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Fu+XN%22">Fu XN</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Ge+L%22">Ge L</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wei+W%22">Wei W</searchLink>; Beijing Kangso Medical Inspection Co., Ltd., Beijing, China.<br /><searchLink fieldCode="AU" term="%22Xiong+H%22">Xiong H</searchLink>; Department of Pediatrics, Peking University First Hospital, Beijing, China.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2023 Jun 05; Vol. 14, pp. 1170089. <i>Date of Electronic Publication: </i>2023 Jun 05 (<i>Print Publication: </i>2023).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fgene.2023.1170089
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        Text: English
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      – TitleFull: Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
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            NameFull: Liu YD
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              Text: 2023 Jun 05
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              Y: 2023
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              Value: 14
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