De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy - Concepedia

Concepedia

Publication | Open Access

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

DOI Full Paper Access

46

Citations

29

References

2020

Year

Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra,

Genetics in Medicine

Epileptic EncephalopathyDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyDisease Gene IdentificationEarly-onset DevelopmentalMedicineSynaptic SignalingVariant InterpretationNeurogenetics

References

	Year	Citations

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