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S. Togi

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Case report Open access Sep 2026

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

Findings demonstrate that c.5273A>G functions as a LoF variant through dual aberrant splicing rather than a simple missense substitution, which underscores the importance of RNA-level splicing analysis for the accurate interpretation and classification of CHD7 missense variants.

Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi et al. · 0 citations

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