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USP53 activates PFIC7. 1 / 1

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"PFIC7 is caused by variants in the USP53 gene, which encodes for Inactive ubiquitin carboxyl-terminal-hydrolase-53, involved in the degradation of proteins; the phenotype related to USP53 mutation is probably related to a defective tight junction complex."

39984942

INDRA sources:

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IndraLab

Statements

USP53 activates PFIC7. 1 / 1

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