Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L231H
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GFAP

NM_002055.5:p.L231H

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

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs.

Delnooz CC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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