Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.P521S
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ELN

NM_000501.4:p.P521S

Associated Papers

Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis.

Nehring P et al.

Medicina (kaunas, Lithuania), 2023

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A et al.

Human Mutation, 2005

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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."