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An unstable variant of GAP43 leads to neurodevelopmental deficiency

An unstable variant of GAP43 leads to neurodevelopmental deficiency

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c8c5c6f1e35b400e91a7af0c962b0dde

An unstable variant of GAP43 leads to neurodevelopmental deficiency

About this item

Full title

An unstable variant of GAP43 leads to neurodevelopmental deficiency

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2024-12, Vol.14 (1), p.31911-12, Article 31911

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome seque...

Alternative Titles

Full title

An unstable variant of GAP43 leads to neurodevelopmental deficiency

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_c8c5c6f1e35b400e91a7af0c962b0dde

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c8c5c6f1e35b400e91a7af0c962b0dde

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-024-83445-w

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