Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G392E
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ELN

NM_000501.4:p.G392E

Associated Papers

[α1-Antitrypsin deficiency].

Hirai T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2016

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

Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies.

Lomas DA

Clinical Medicine (london, England), 0

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