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Characterization of .c.9560A>G Mutation in Exon 65: Implications for mRNA and Protein Structure

This report examines the .c.9560A>G (p.Asp3187Gly) mutation located in exon 65, which may influence the expression and stability of associated mRNA transcripts. The alteration leads to a change in the amino acid sequence from Aspartic Acid to Glycine at position 3187. We discuss the implications of this mutation on the gene function, potential roles in disease, and its relevance in clinical diagnostics. Comprehensive analysis of intronic and exonic interactions is included to understand the mutation's impact on genetic expression.

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Characterization of .c.9560A>G Mutation in Exon 65: Implications for mRNA and Protein Structure

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  1. c.9560A>G (p.Asp3187Gly) Exon 65 g.DNA A exon 65 intron 65 mRNA del ATAC exon 65 exon 66 B Pt exon 65 exon 66 Ctr

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