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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA1

Variant:p.G216V

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SERPINA1

NM_000295.5:p.G216V

hg38:chr14:94381141 C>A

Associated Papers

Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.

Ottaviani S et al.

Journal of Clinical Laboratory Analysis, 2020

32181528 (PubMed )

Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.

Veith M et al.

International Journal of Chronic Obstructive Pulmonary Disease, 2019

31819391 (PubMed )

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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."