Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"identified variants submitted to clinvar (submission id: sub6667166; organization id: 507341). data availability statement data available on request due to privacy/ethical restrictions. identified variants submitted to clinvar (submission id: sub6667166; organization id: 507341"
"CONFLICT OF INTERESTS: Y. J. Crow has undertaken consultancy work with Biogen on behalf of the University of Edinburgh."
"Yanick J. Crow acknowledges The University of Maryland Brain and Tissue Bank of the NIH NeuroBioBank. Yanick J. Crow acknowledges the European Research Council (786142-E-T1IFNs), a state subsidy managed by the National Research Agency (France) under the “Investments for the Future” program bearing the reference ANR-10-IAHU-01 and the MSDAvenir fund (DEVO-DECODE Project). Tracy A. Briggs acknowledges the National Institute for Health Research (NIHR; NIHR Transitional Research Fellowship, TRF-2016-09-002; with the views expressed were those of the author and not necessarily those of the NHS, the NIHR or the Department of Health). Adeline L. Vanderver is supported by the Kamens endowed chair for Translational Neurotherapeutics and the Myelin Disorders Bioregistry Project. Adeline L. Vanderver and Laura A. Adang acknowledge the CURE Pennsylvania Frontiers in Leukodystrophy grant and U01HD082806. Laura A. Adang also acknowledges the National Center for Advancing Translational Sciences of the National Institutes of Health under award number KL2TR001879. Lien Van Eyck received funding from Research Foundation Flanders (FWO). Funding information Public Health Research Programme, Grant/Award Number: TRF-2016-09-002; National Center for Advancing Translational Sciences of the National Institutes of Health, Grant/Award Number: KL2TR001879; CURE Pennsylvania Frontiers in Leukodystrophy, Grant/Award Number: U01HD082806; H2020 European Research Council, Grant/Award Number: 786142-E-T1IFNs; Agence Nationale de la Recherche, Grant/Award Number: ANR-10-IAHU-01; MSDAvenir fund, Grant/Award Number: DEVO-DECODE Project; NIHR Transitional Research Fellowship, Grant/Award Number: TRF-2016-09-002"
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Last Updated: Aug 05, 2025