Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Authors:
Rice GI; Park S; Gavazzi F; Adang LA; Ayuk LA and 58 more

Journal:
Hum Mutat

Publication Year: 2020

DOI:
10.1002/humu.23975

PMCID:
PMC7457149

PMID:
31898846

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

Transparency Score
3/6
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Evidence found in paper:

"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"

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Evidence found in paper:

"CONFLICT OF INTERESTS: Y. J. Crow has undertaken consultancy work with Biogen on behalf of the University of Edinburgh."

Evidence found in paper:

"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