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The number of variants in ClinVar for this gene, which includes smaller sized variants within the gene and bigger CNVs that overlap or thoroughly have the gene.

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Aberrant five' splice websites in human condition genes: mutation sample, nucleotide construction and comparison of computational instruments that predict their utilization.

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This sequence adjust influences codon 777 on the GAA mRNA. It's really a 'silent' improve, this means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is A part of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported within the literature in people affected with GAA-linked disorders.

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