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LIN , Sheng-Jia

Last name: LIN

First name: Sheng-Jia

2022 (v1)

Publication

Metadata-only

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Calì, Elisa Lin, Sheng-Jia Rocca, Clarissa

The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.

Uploaded on: February 14, 2024