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A study of seven families with ten children who have features of Rothmund-Thomson syndrome type 1 identified a deep intronic splicing variant in the ANAPC1 gene.[216] Five individuals were homozygous for this variant, and three individuals had a second predicted pathogenic variant in ANAPC1 in trans

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A portion of the resulting acid extract (0.5 ml) was added to a tube with 50 l solution containing 15 mmol/L -glutamyl-glutamate (-Glu-Glu) as the internal standard