Fig. 5From: New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case reportMissense variant present in exon 14. The variant was determined to be PCNT: NM_006031, exon 14, c.T2515C, p.C839R; NM_001315529, exon 14, c.T2161C, p.C721R. a Sanger sequencing results for the patient and her mother. b Mutation map of two isoforms (transcript variants)Back to article page