<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p
The genetic components are involved in aetiology of the common human diseases. For most of them it i...
<p>Associations between genotyped variants identified from sequencing brought forward to the entire ...
A genetic basis for interindividual variation in susceptibility to human infectious diseases has bee...
In studies of polygenic disorders, scanning the genetic variants can be used to identify variant com...
Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially expla...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
<p>Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.</p
Inherited diseases are health problems caused by one or more abnormalities in the genome. It can be ...
<p>Germline variants and copy number variation (CNVs) identified and associated syndromes.</p
Description of genetic variants related to T2D examined in the present study.</p
Susceptibility to common human diseases is influenced by both genetic and environmental factors. The...
Genetic variants reported as benign in MITOMAP detected in 100 patients tested.</p
<p>Distribution of pathogenic variants and variants of uncertain significance.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
International audienceWe performed a scan for genetic variants associated with multiple phenotypes b...
The genetic components are involved in aetiology of the common human diseases. For most of them it i...
<p>Associations between genotyped variants identified from sequencing brought forward to the entire ...
A genetic basis for interindividual variation in susceptibility to human infectious diseases has bee...
In studies of polygenic disorders, scanning the genetic variants can be used to identify variant com...
Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially expla...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
<p>Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.</p
Inherited diseases are health problems caused by one or more abnormalities in the genome. It can be ...
<p>Germline variants and copy number variation (CNVs) identified and associated syndromes.</p
Description of genetic variants related to T2D examined in the present study.</p
Susceptibility to common human diseases is influenced by both genetic and environmental factors. The...
Genetic variants reported as benign in MITOMAP detected in 100 patients tested.</p
<p>Distribution of pathogenic variants and variants of uncertain significance.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
International audienceWe performed a scan for genetic variants associated with multiple phenotypes b...
The genetic components are involved in aetiology of the common human diseases. For most of them it i...
<p>Associations between genotyped variants identified from sequencing brought forward to the entire ...
A genetic basis for interindividual variation in susceptibility to human infectious diseases has bee...