Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L130P
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GFAP

NM_002055.5:p.L130P

Associated Papers

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

Schuilenga-Hut PH et al.

Human Mutation, 2003

cDNA cloning, expression, and assembly characteristics of mouse keratin 16.

Porter RM et al.

The Journal of Biological Chemistry, 1998

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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."