Associated Papers
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT).
Mróz J et al.
Genes, 2024
Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency.
Shaik NA et al.
Frontiers in Molecular Biosciences, 2022
Laboratory and Genetic Biomarkers Associated with Cerebral Blood Flow Velocity in Hemoglobin SC Disease.
Santiago RP et al.
Disease Markers, 2017
Increased frequency of gastrin-releasing peptide receptor gene mutations during colon-adenocarcinoma progression.
Glover SC et al.
Molecular Carcinogenesis, 2003
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
Mustajoki S et al.
Human Genetics, 1998
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