One sporadic BCC presented the mutation g.2885G > C in exon 17 of PTCH1 , which predicts the substitution p.R962T in an external domain of the protein .
O O B-DiseaseOrPhenotypicFeature O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O B-GeneOrGeneProduct O O O O O B-SequenceVariant O O O O O O O O