Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.L298delFs
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AGXT

NM_000030.3:p.L298delFs

Associated Papers

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Hamada T et al.

The Journal of Investigative Dermatology, 2003

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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."