Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy - Concepedia

Concepedia

Publication | Open Access

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

DOI Full Paper Access

34

Citations

25

References

2019

Year

Ruth Sheffer, Michal Gur, Rebecca Brooks, Somaya Salah, Muhannad Daana, Nitay Fraenkel, Eli M. Eisenstein, Malcolm Rabie, Yoram Nevo, Chaim Jalas,

European Journal of Human Genetics

Molecular NeuroscienceBiallelic VariantsMedicineGeneticsGenetic DisorderDegenerative DiseaseNeuroscienceNeurologyDisease Gene IdentificationTubulin DeglutamylationNeuropathologyNeuromuscular PathologyMotor NeuropathySocial Sciences

References

	Year	Citations

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