TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study - Concepedia

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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

DOI Full Paper Access

86

Citations

16

References

2020

Year

Barbara Ogórek, Lana Hamieh, Hanna M. Hulshof, Kathryn D. Lasseter, Katarzyna Klonowska, Hugo J. Kuijf, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney,

Genetics in Medicine

Autoimmune DiseaseGenetic DisorderEpistop StudyPathogenesisGenetic EpidemiologyPediatricsPathologyTsc InfantsMedicineTuberous SclerosisInborn Error Of ImmunityVariant InterpretationTsc2 Pathogenic Variants

References

	Year	Citations

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