<p>Potential causative variants and mutations identified in the blinded clinical samples.</p
Mutations identified using next generation sequencing as stratified by the European society of medic...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
The pathogenic and likely pathogenic variants of OTOF identified in this study.</p
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
<p>Missense mutations and the resultant phenotypes observed in the families described in the present...
<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p
<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...
Mutations detected in the baseline drug resistance testing (bDRT); global results and results by pat...
<p>*D = damaging; P = probably damaging; T = tolerated; B = benign.</p><p><sup>†</sup>AR: autosomal ...
<p>Mutations identified in the selected clones from the error-prone PCR library.</p
In-silico analysis data of disease-causing variants identified in this study.</p
<p>Mutations included in the kits used for the molecular diagnosis of CF patients.</p
<p>Prevalence of predicted damaging mutations in domain instances among cancer types.</p
Potentially causal missense mutations in C. albicans isolates, homozygous mutations in bold.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
Mutations identified using next generation sequencing as stratified by the European society of medic...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
The pathogenic and likely pathogenic variants of OTOF identified in this study.</p
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
<p>Missense mutations and the resultant phenotypes observed in the families described in the present...
<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p
<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...
Mutations detected in the baseline drug resistance testing (bDRT); global results and results by pat...
<p>*D = damaging; P = probably damaging; T = tolerated; B = benign.</p><p><sup>†</sup>AR: autosomal ...
<p>Mutations identified in the selected clones from the error-prone PCR library.</p
In-silico analysis data of disease-causing variants identified in this study.</p
<p>Mutations included in the kits used for the molecular diagnosis of CF patients.</p
<p>Prevalence of predicted damaging mutations in domain instances among cancer types.</p
Potentially causal missense mutations in C. albicans isolates, homozygous mutations in bold.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
Mutations identified using next generation sequencing as stratified by the European society of medic...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
The pathogenic and likely pathogenic variants of OTOF identified in this study.</p
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