Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G148D
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ELN

NM_000501.4:p.G148D

Associated Papers

Phenotypic findings associated with variation in elastin.

Justice A et al.

Hgg Advances, 2025

39604264 (PubMed )
Supplement: mmc1.pdf

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A et al.

Biochimica Et Biophysica Acta, 2011

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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."