Associated Papers
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Tsai MM et al.
Human Molecular Genetics, 2026
[Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation].
Gao J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
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