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Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

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Title: Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
Authors: Hodgson, A. K. O.1, akohodgson1@sheffield.ac.uk, Baxandall, L.2, Aiyedun, D.3, Li, A.4, Au, P. Y. B.5, Bain, J. M.6, Gillentine, M. A.7, Goel, H.8,9, Kline, A. D.10, Ricupero, C. L.11, Sánchez‐Carpintero, R.12,13, Seward, E. P.4, Sidlow, R.14, Wilson, S. A.4, Balasubramanian, M.3,15, m.balasubramanian@sheffield.ac.ukmeena.balasubramanian@nhs.net
Source: American Journal of Medical Genetics. Part A; Jun2025, Vol. 197 Issue 6, p1-12, 12p
Database: Applied Science & Technology Source
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  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 184952012
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Jun2025, Vol. 197 Issue 6, p1-12, 12p
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              Text: Jun2025
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