Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.P2S
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SERPINA1

NM_000295.5:p.P2S

Associated Papers

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.

Manoubi W et al.

World Journal of Clinical Cases, 2024

Asian-specific mitochondrial genome polymorphism (9-bp deletion) in Hungarian patients with mitochondrial disease.

Pentelenyi K et al.

Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2016

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.

Ozkinay F et al.

Hemoglobin, 2015

Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

Zhou Z et al.

Molecular Vision, 2011

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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."