Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.V151A
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GFAP

NM_002055.5:p.V151A

Associated Papers

Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcification.

Schwahn J et al.

Brain Communications, 2025

41180951 (PubMed )
Supplement: fcaf388_supplementary_data.pdf

A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.

Wang JY et al.

Brain and Behavior, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."