Concepedia

Publication | Open Access

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

DOIFull Paper Access

16

Citations

12

References

2022

Year

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca, Yavuz Şahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Châabouni, Kshitij Mankad, Evangelia Galanaki, Stéphanie Efthymiou,
Genetics in Medicine

Abstract

Loss of the C-terminal of MED subunit 11 may affect its binding efficiency to other MED subunits, thus implicating the MED-complex stability in brain development and neurodegeneration.

References

YearCitations

Page 1