DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.
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| Title: | DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER. |
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| Authors: | Deb W, Besnard T, Desprez F, Cogné B, Do Souto Ferreira L, Vignard V, Marouillat S, Januel L, Gorokhova S, Busa T, Morel V, Dauriat B, Desportes V, Slavotinek AM, An Y, Lee H, Hary J, Kannu P, Athey TB, van de Laar IMBH, van Slegtenhorst MA, Dickson P, Muir AM, Buchert R, Haack TB, Imort D, Sousa SB, Xavier B, Almeida PM, Rogac M, Peterlin B, Kaspar S, Netzer C, Zempel H, Towne MC, Ladda RL, Sell SS, Gawlinski P, Song X, Wiszniewski W, Calame DG, Posey JE, Ebstein F, Lupski JR, Isidor B, Bézieau S, Laumonnier F, Küry S |
| Source: | MedRxiv : the preprint server for health sciences [medRxiv] 2025 Dec 12. Date of Electronic Publication: 2025 Dec 12. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41415500 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink><br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink><br /><searchLink fieldCode="AU" term="%22Desprez+F%22">Desprez F</searchLink><br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink><br /><searchLink fieldCode="AU" term="%22Do+Souto+Ferreira+L%22">Do Souto Ferreira L</searchLink><br /><searchLink fieldCode="AU" term="%22Vignard+V%22">Vignard V</searchLink><br /><searchLink fieldCode="AU" term="%22Marouillat+S%22">Marouillat S</searchLink><br /><searchLink fieldCode="AU" term="%22Januel+L%22">Januel L</searchLink><br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink><br /><searchLink fieldCode="AU" term="%22Busa+T%22">Busa T</searchLink><br /><searchLink fieldCode="AU" term="%22Morel+V%22">Morel V</searchLink><br /><searchLink fieldCode="AU" term="%22Dauriat+B%22">Dauriat B</searchLink><br /><searchLink fieldCode="AU" term="%22Desportes+V%22">Desportes V</searchLink><br /><searchLink fieldCode="AU" term="%22Slavotinek+AM%22">Slavotinek AM</searchLink><br /><searchLink fieldCode="AU" term="%22An+Y%22">An Y</searchLink><br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink><br /><searchLink fieldCode="AU" term="%22Hary+J%22">Hary J</searchLink><br /><searchLink fieldCode="AU" term="%22Kannu+P%22">Kannu P</searchLink><br /><searchLink fieldCode="AU" term="%22Athey+TB%22">Athey TB</searchLink><br /><searchLink fieldCode="AU" term="%22van+de+Laar+IMBH%22">van de Laar IMBH</searchLink><br /><searchLink fieldCode="AU" term="%22van+Slegtenhorst+MA%22">van Slegtenhorst MA</searchLink><br /><searchLink fieldCode="AU" term="%22Dickson+P%22">Dickson P</searchLink><br /><searchLink fieldCode="AU" term="%22Muir+AM%22">Muir AM</searchLink><br /><searchLink fieldCode="AU" term="%22Buchert+R%22">Buchert R</searchLink><br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink><br /><searchLink fieldCode="AU" term="%22Imort+D%22">Imort D</searchLink><br /><searchLink fieldCode="AU" term="%22Sousa+SB%22">Sousa SB</searchLink><br /><searchLink fieldCode="AU" term="%22Xavier+B%22">Xavier B</searchLink><br /><searchLink fieldCode="AU" term="%22Almeida+PM%22">Almeida PM</searchLink><br /><searchLink fieldCode="AU" term="%22Rogac+M%22">Rogac M</searchLink><br /><searchLink fieldCode="AU" term="%22Peterlin+B%22">Peterlin B</searchLink><br /><searchLink fieldCode="AU" term="%22Kaspar+S%22">Kaspar S</searchLink><br /><searchLink fieldCode="AU" term="%22Netzer+C%22">Netzer C</searchLink><br /><searchLink fieldCode="AU" term="%22Zempel+H%22">Zempel H</searchLink><br /><searchLink fieldCode="AU" term="%22Towne+MC%22">Towne MC</searchLink><br /><searchLink fieldCode="AU" term="%22Ladda+RL%22">Ladda RL</searchLink><br /><searchLink fieldCode="AU" term="%22Sell+SS%22">Sell SS</searchLink><br /><searchLink fieldCode="AU" term="%22Gawlinski+P%22">Gawlinski P</searchLink><br /><searchLink fieldCode="AU" term="%22Song+X%22">Song X</searchLink><br /><searchLink fieldCode="AU" term="%22Wiszniewski+W%22">Wiszniewski W</searchLink><br /><searchLink fieldCode="AU" term="%22Calame+DG%22">Calame DG</searchLink><br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink><br /><searchLink fieldCode="AU" term="%22Ebstein+F%22">Ebstein F</searchLink><br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink><br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink><br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink><br /><searchLink fieldCode="AU" term="%22Laumonnier+F%22">Laumonnier F</searchLink><br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2025 Dec 12. <i>Date of Electronic Publication: </i>2025 Dec 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Preprint – Name: TitleSource Label: Journal Info Group: Src Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41415500 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.64898/2025.12.11.25341975 Languages: – Code: eng Text: English Titles: – TitleFull: DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Deb W – PersonEntity: Name: NameFull: Besnard T – PersonEntity: Name: NameFull: Desprez F – PersonEntity: Name: NameFull: Cogné B – PersonEntity: Name: NameFull: Do Souto Ferreira L – PersonEntity: Name: NameFull: Vignard V – PersonEntity: Name: NameFull: Marouillat S – PersonEntity: Name: NameFull: Januel L – PersonEntity: Name: NameFull: Gorokhova S – PersonEntity: Name: NameFull: Busa T – PersonEntity: Name: NameFull: Morel V – PersonEntity: Name: NameFull: Dauriat B – PersonEntity: Name: NameFull: Desportes V – PersonEntity: Name: NameFull: Slavotinek AM – PersonEntity: Name: NameFull: An Y – PersonEntity: Name: NameFull: Lee H – PersonEntity: Name: NameFull: Hary J – PersonEntity: Name: NameFull: Kannu P – PersonEntity: Name: NameFull: Athey TB – PersonEntity: Name: NameFull: van de Laar IMBH – PersonEntity: Name: NameFull: van Slegtenhorst MA – PersonEntity: Name: NameFull: Dickson P – PersonEntity: Name: NameFull: Muir AM – PersonEntity: Name: NameFull: Buchert R – PersonEntity: Name: NameFull: Haack TB – PersonEntity: Name: NameFull: Imort D – PersonEntity: Name: NameFull: Sousa SB – PersonEntity: Name: NameFull: Xavier B – PersonEntity: Name: NameFull: Almeida PM – PersonEntity: Name: NameFull: Rogac M – PersonEntity: Name: NameFull: Peterlin B – PersonEntity: Name: NameFull: Kaspar S – PersonEntity: Name: NameFull: Netzer C – PersonEntity: Name: NameFull: Zempel H – PersonEntity: Name: NameFull: Towne MC – PersonEntity: Name: NameFull: Ladda RL – PersonEntity: Name: NameFull: Sell SS – PersonEntity: Name: NameFull: Gawlinski P – PersonEntity: Name: NameFull: Song X – PersonEntity: Name: NameFull: Wiszniewski W – PersonEntity: Name: NameFull: Calame DG – PersonEntity: Name: NameFull: Posey JE – PersonEntity: Name: NameFull: Ebstein F – PersonEntity: Name: NameFull: Lupski JR – PersonEntity: Name: NameFull: Isidor B – PersonEntity: Name: NameFull: Bézieau S – PersonEntity: Name: NameFull: Laumonnier F – PersonEntity: Name: NameFull: Küry S IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 12 Text: 2025 Dec 12 Type: published Y: 2025 Titles: – TitleFull: MedRxiv : the preprint server for health sciences Type: main |
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