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Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

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The authors have realized that a typographic error occurred in Table 1 in the description of sequence variants usingHGVSnomenclature, compared to the original manuscript. Indeed, in the columns “nucleotide change”… Click to show full abstract

The authors have realized that a typographic error occurred in Table 1 in the description of sequence variants usingHGVSnomenclature, compared to the original manuscript. Indeed, in the columns “nucleotide change” and “amino-acid change”, a superscript “a” was inserted for all non-sense mutations anddeletions encompassing the last exon instead of an “asterisk” to indicate a translation termination codon. Errors have been corrected throughout the Table 1 andwe provide here a revised version of this Table.

Keywords: gene involved; gpc3 gene; mutation update; update gpc3; involved simpson; mutation

Journal Title: Human Mutation
Year Published: 2018

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