Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.M1I
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SERPINA1

NM_000295.5:p.M1I

Associated Papers

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.

Lodewijk GA et al.

Molecular Biology and Evolution, 2020

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Arman A et al.

Orphanet Journal of Rare Diseases, 2014

[Electrophoretic alpha 1-antitrypsin variation in the Swiss population].

Scheffrahn W et al.

Anthropologischer Anzeiger; Bericht Uber Die Biologisch-anthropologische Literatur, 1982

The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil.

Felisbino MB et al.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0

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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."