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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFAP

Variant:p.D395V

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GFAP

NM_002055.5:p.D395V

hg38:chr17:44908137 T>A

Associated Papers

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Al-Hedaithy A et al.

Scientific Reports, 2025

39747233 (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."