Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.Y242N
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GFAP

NM_002055.5:p.Y242N

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

Towards genomic database of Alexander disease to identify variations modifying disease phenotype.

Yasuda R et al.

Scientific Reports, 2019

Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.

Yoshida T et al.

European Neurology, 2017

Familial Adult-Onset Alexander Disease with a Novel GFAP Mutation.

Ogura H et al.

Movement Disorders Clinical Practice, 0

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