Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.S248delFs
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GFAP

NM_002055.5:p.S248delFs

Associated Papers

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Has C et al.

The Journal of Investigative Dermatology, 2006

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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."