De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review
Abstract Background The TRIM8 gene encodes a protein that participates in various biological processes. TRIM8 variants can lead to early termination of protein translation, which can cause a rare disease called neuro-renal syndrome. This syndrome is characterized by epilepsy, psychomotor retardation...
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BMC,
2023-04-01T00:00:00Z.
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