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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Subjects: Male; Mutant; congenital disorders of glycosylation

  • Source: American Journal of Human Geneticsr-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i PujolinstnameThe American Journal of

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The Genetic Landscape and Epidemiology of Phenylketonuria

Subjects: 0301 basic medicine; PAH DEFICIENCY; BH4

  • Source: Am J Hum GenetAmerican Journal of Human Genetics, 107(2), 234-250. CELL PRESSCONICET Digital (CONICET)Consejo Nacional de Investigaciones Científicas

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The impact of viral mutations on recognition by SARS-CoV-2 specific T cells

Subjects: Molecular biology; Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2); Science

  • Source: iScience, Vol 24, Iss 11, Pp 103353-(2021)ISCIENCEInvestigators, ISARICC & Dark, P 2021, ' The impact of viral mutations on recognition by SARS-CoV-2 specific T cells. ', iScience, vol.

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