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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFAP

Variant:p.R286Q

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GFAP

NM_002055.5:p.R286Q

hg38:chr17:44911721 C>T

Associated Papers

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Wu G et al.

Frontiers in Neuroscience, 2022

36161165 (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."