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OMIM@xiajingbo:102560-10-ACTG1 JSONTXT

Riviere et al. (2012) reported a single individual with Baraitser-Winter syndrome-2 (BRWS2; 614583) carrying a de novo heterozygous mutation in ACTG1, a C-to-T transition at nucleotide 359 resulting in a thr-to-ile substitution at codon 120 (T120I). This mutation was not observed in 244 other exomes sequenced.

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