Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—m...
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues
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Publisher
Switzerland: Frontiers Media S.A
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Language
English
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Switzerland: Frontiers Media S.A
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Contents
Recently a broad range of phenotypic abnormalities related to the neurodevelopmental and neurodegenerative disorder NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) have been associated with rare single-nucleotide polymorphisms (SNPs) or insertion and deletion variants (Indel) in the intron-les...
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Full title
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues
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TN_cdi_doaj_primary_oai_doaj_org_article_983afda755534c0991c5bb073d9cbeaf
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_983afda755534c0991c5bb073d9cbeaf
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ISSN
1662-453X,1662-4548
E-ISSN
1662-453X
DOI
10.3389/fnins.2024.1426177
