Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy - Concepedia

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

DOI Full Paper Access

64

Citations

33

References

2016

Year

Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti,

The American Journal of Human Genetics

Genetic DisorderGeneticsDegenerative DiseaseNeuroscienceNeurologyMolecular NeurobiologyNeuropathologyMedicineRecessive Inactivating MutationsRab Gtpase-activating Protein

References

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