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TBC1D23
(gene)
Summary
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Ileum mucosa
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Parotid gland
Rectum colon
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Literature
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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Develo…
TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi.
TBC1 domain family member 23 interacts with Ras-related protein Rab-11A to promote poor prognosis of…
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology…
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