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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.E244K

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DES

NM_001927.4:p.E244K

hg38:chr2:219420341 G>A

Associated Papers

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Brenner M et al.

Nature Genetics, 2001

11138011 (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."