OMIM@xiajingbo:102560-12-ACTG1 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/OMIM@xiajingbo/sourceid/102560-12-ACTG1","sourcedb":"OMIM@xiajingbo","sourceid":"102560-12-ACTG1","text":"In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified a heterozygous C-to-A transversion at nucleotide 608 of the ACTG1 gene, resulting in an thr-to-lys substitution at codon 203 (T203K). 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