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Clinically normal of two affected daughters;affected daughter is GM20172;donor subject is heterozygous for a donor site mutation: a deletion of TGAG at positons 2-5 in the cryptic splice-donor site of IVS4 (IVS4+2delTGAG) of the MARVELD2 (TRIC) gene the mRNA uses the site that introduces 23 bp of intron 4 which results in a premature stop codon (p.K445fsX461)
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