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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFAP

Variant:p.I238S

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GFAP

NM_002055.5:p.I238S

hg38:chr17:44913336 A>C

Associated Papers

A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis.

Yousaf MA et al.

Gene, 2025

40043923 (PubMed )

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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."