Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.F80S
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GFAP

NM_002055.5:p.F80S

Associated Papers

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

Grossi A et al.

Scientific Reports, 2024

39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

Matsumoto A et al.

Brain & Development, 2018

Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

da Silva Pereira CC et al.

Journal of Computer Assisted Tomography, 0

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