Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic var
ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in t
In this dataset, exome and genome sequencing for suspected primary ciliary dyskinesia cohort, including FASTQ, VCF, and BAM files. 61 participants and their family members had exome sequencing perform
