A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome - Concepedia

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

DOI Full Paper Access

18

Citations

17

References

2020

Year

Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour,

European Journal of Human Genetics

Down SyndromeNeurodegenerative DiseasesMendelian DisorderGenetic DisorderGeneticsMolecular BiologyDegenerative DiseaseNeurologyDisease Gene IdentificationNeurodegenerationEarly-infantile Neurodegenerative SyndromeNeuropathologyMedicineNeurogenetics

References

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