Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss - Concepedia

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Publication | Open Access

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

DOI Full Paper Access

40

Citations

16

References

2021

Year

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex M. Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo,

The American Journal of Human Genetics

Allelic VariantTranslational BiologyGenetic DisorderGeneticsBi-allelic VariantsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationSystems BiologyMedicineVariant InterpretationNeurogeneticsHearing Loss

References

	Year	Citations

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