Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.K283*
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SERPINA1

NM_000295.5:p.K283*

Associated Papers

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.

Jouhadi Z et al.

Respiratory Medicine Case Reports, 2018

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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."