AUTS2 Syndrome: Molecular Mechanisms and Model Systems
AUTS2 Syndrome: Molecular Mechanisms and Model Systems
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Publisher
Switzerland: Frontiers Research Foundation
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Language
English
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Publisher
Switzerland: Frontiers Research Foundation
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Scope and Contents
Contents
AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3’ regions (exons 9-19) of the
AUTS2
gene. Human AUTS2 protein has two major isoforms, full-length (1259 aa) and C-terminal (711 aa), the latter produced from an alternative transcript...
Alternative Titles
Full title
AUTS2 Syndrome: Molecular Mechanisms and Model Systems
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TN_cdi_doaj_primary_oai_doaj_org_article_b055d3ed8723439eb7145c9b8f026b2c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b055d3ed8723439eb7145c9b8f026b2c
Other Identifiers
ISSN
1662-5099
E-ISSN
1662-5099
DOI
10.3389/fnmol.2022.858582
