Autor: Yizheng Jiang
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Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family
BackgroundMarinesco-Sjögren syndrome (MSS) is a rare and disabling genetic disorder caused primarily by pathogenic variants in the SIL1 gene. SIL1 functions as a nucleotide exchange factor for the molecular chaperone BiP within the endoplasmic reticulu…