Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome - Concepedia

Concepedia

Publication | Open Access

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

DOI Full Paper Access

98

Citations

72

References

2021

Year

Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie,

Nature Genetics

Developmental AnomalyPathogenic Sptbn1 VariantsBrain DevelopmentMedicineGeneticsGenetic DisorderNeurologyDisease Gene IdentificationNeuroimmunologyNeurogenetics

References

	Year	Citations

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