Hereditary disorders often present remarkable genetic and clinical heterogeneities,but bridging the gap between pathogenic mutation and clinical consequences remains challenging.One plausible explanation is the presen...Hereditary disorders often present remarkable genetic and clinical heterogeneities,but bridging the gap between pathogenic mutation and clinical consequences remains challenging.One plausible explanation is the presence of second-hit modifier mutations,which could create additional genetic complexity to contribute to clinical heterogeneities.展开更多
基金supported by the National Natural Science Foundation of China(No.32070690 to X.G.)the Natural Science Foundation of Shaanxi Province,China(No.2020JM-412 to X.G.).
文摘Hereditary disorders often present remarkable genetic and clinical heterogeneities,but bridging the gap between pathogenic mutation and clinical consequences remains challenging.One plausible explanation is the presence of second-hit modifier mutations,which could create additional genetic complexity to contribute to clinical heterogeneities.
