Associated Papers
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6
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
Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center.
Kueppers F
Respiratory Medicine Case Reports, 2021
Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
Kueppers F et al.
Bmc Medical Genetics, 2019
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Matamala N et al.
American Journal of Respiratory Cell and Molecular Biology, 2018
Definitive hematopoiesis requires Runx1 C-terminal-mediated subnuclear targeting and transactivation.
Dowdy CR et al.
Human Molecular Genetics, 2010
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