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.
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
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PubType: Academic Journal
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  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
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        Value: 10.64898/2025.12.11.25341975
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