Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.R63H
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SERPINA1

NM_000295.5:p.R63H

Associated Papers

Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.

Wiesemann GS et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Musumeci A et al.

Biomedicines, 2022

36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S2.xlsx › 5078-NP1688_Leuko_v1-full
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