Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L300R
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SERPINA1

NM_000295.5:p.L300R

Associated Papers

Molecular characterization of PI * S hangzhou , a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin.

Hernández-Pérez JM et al.

Frontiers in Pediatrics, 2022

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.

Foil KE

Therapeutic Advances in Chronic Disease, 2021

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