Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.H358Y
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SERPINA1

NM_000295.5:p.H358Y

Associated Papers

Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency.

Höger P et al.

Respiratory Medicine Case Reports, 2023

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