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Table 1 isoforms of POC1A transcript detected in control sample and the pedigree samples

From: Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

  Full-length isoform 10-isoform 9-isoform 9- and 10- isoform
Control 62/74 (83.78%) 12/74 (16.22%) 0/74 (0.00%) 0/74 (0.00%)
Carrier (father) 29/76 (38.16%) 5/76 (6.58%) 34/76 (44.74%) 8/76 (10.53%)
Carrier (mother) 27/76 (35.53%) 3/76 (3.95%) 37/76 (48.68%) 9/76 (11.84%)
Proband 0/80 (0.00%) 0/80 (0.00%) 69/80 (86.25%) 11/80 (13.75%)