Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family
Structural prediction and coimmunoprecipitation indicate that the compound variants may be associated with the development of MSS by weakening SIL1-BiP binding, and preliminary functional evidence that the identified variants may affect SIL1 abundance and SIL1-BiP interaction, supporting their relevance to the MSS phenotype.
Yi-Zheng Jiang, Aojie Lian, Jialing Guo
· Frontiers in Genetics · 0 citations