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ArticleFrontiers in genetics2026

Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene.

Qiong-Yu Wang et al.PubMed ↗Full text ↗Publisher ↗

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Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene. | OpenQuestion