Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G392R
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ELN

NM_000501.4:p.G392R

Associated Papers

alpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies.

Ekeowa UI et al.

Clinical Science (london, England : 1979), 2009

Conformational pathology of the serpins: themes, variations, and therapeutic strategies.

Gooptu B et al.

Annual Review of Biochemistry, 2009

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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."