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Article

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Scientific reports - 17 Oct 2024

Grossi Alice, Rosamilia Francesca, Carestiato Silvia, Salsano Ettore, Ceccherini Isabella, Bachetti Tiziana

Abstract excerpt

Alexander disease (ALXDRD) is a rare neurodegenerative disorder of astrocytes resulting from pathogenic variants in the GFAP gene. The genotype-phenotype correlation remains elusive due to the variable expressivity of clinical manifestations. In an attempt to clarify the effects of GFAP variants in ALXDRD, numerous studies were collected and analyzed. In particular, we systematically searched for GFAP variants...

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Identifiers

PMID: 39420046
DOI: 10.1038/s41598-024-75383-4
PMCID: PMC11487261

Genes

GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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