Christian Staufner

Latest

• aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
• aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
• Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
• Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1