Article

Alexander Disease: Screening and<i>in silico</i>functional characterization of variants on candidate gene

2024-02-20

Abstract excerpt

<h4>Background</h4> Alexander disease is a rare neurological ailment caused by the degeneration of the white matter of the brain accompanied with the formation of Rosenthal fibers, a unique cytoplasmic inclusion within astrocytes (non-nerve tissue) in the brain. Till to date only heterozygous de novo mutation in Glial Fibrillary Acidic Protein ( GFAP ) gene is found to be associated for the disease phenotype. <h4>...

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Literature Corpus work: 7bb25e4f-4257-5e50-973c-1add20e2f67e
DOI: 10.1101/2024.02.19.24302650

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