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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

L. Hui

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Case report Aug 2026

Effect of the unreported COL5A2 variant c.2499 + 4_2499 + 5insTAA on RNA splicing: Insights from minigene assays.

These findings expand the variant spectrum of COL5A2, improving molecular diagnosis of cEDS, and validate the pathogenicity of an unreported COL5A2 intronic variant in a Chinese family with cEDS.

Zhongying Zhao, Lianrui Tang, Jing Zhu et al. · 0 citations
Open access Jul 2026

Identification of Novel HUWE1 Variants in Turner-Type X-Linked Intellectual Disability.

This study expands the pathogenic variant spectrum of HUWE1 and provides novel molecular evidence for the clinical diagnosis of Turner-type XLID and is of significant value for genetic counseling, carrier screening, and prenatal diagnosis for the affected families.

Jing-Jing Zhang, Jing He, H. Pan et al. · 0 citations

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