Additional supporting information may be found in the online version of this article.

AJMA_32834_sm_SupplFig2.pdf30KFig. 2: Exon 2 rare variant 122C/T demonstrates two transcripts are present in the patient. Sequencing peak levels at nucleotide 122 show a 40% reduction in the C:T ratio compared with the genomic DNA. This is consistent with the hypothesis that partial nonsense mediated RNA decay (NMRD) occurs due to a premature termination codon in the transcript lacking exon 22. Note that phrase of the two variants could not be determined.
AJMA_32834_sm_SupplFig3.pdf36KFig. 3: Electropherogram of patient TCOF1 cDNA, showing precise skipping of exon 22.
AJMA_32834_sm_SupplTab1.pdf13KTable I: Primers for the amplification of TCOF1 exons, including universal M13 tags for sequencing (underlined).

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