ArticleFrontiers in genetics2026
Integrated genetic identification and molecular dynamics simulations in a novel
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Stickler syndrome (SS) is a genetically and clinically heterogeneous connective tissue disorder. This study aimed to investigate the genetic etiology in a Chinese patient associated with SS and characterize the novel pathogenic variant. Methods: Whole-exome sequencing (WES) was performed on the proband, and Sanger sequencing was conducted on both the proband and all available family members for variant validation. Variants were filtered by multiple Results: A novel compound heterozygous Conclusion: Compound heterozygous
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