Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.P27L
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SERPINA1

NM_000295.5:p.P27L

Associated Papers

Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.

Bengtson P et al.

Clinical Mass Spectrometry (del Mar, Calif.), 2016

39192843 (PubMed )
Supplement: mmc1.docx

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA et al.

Brain : a Journal of Neurology, 2001

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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."