ClinVar Accession ID of the variants generated in the given study. The variants identified through Sanger sequencing are reported in NCBI ClinVar database. The file provides accession ID and the links to an individual variant. (DOCX 14 kb
Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45)...
ClinVar Accession ID of the variants generated in the given study. The variants identified through S...
In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...
Biochemical analysis of the Gaucher Disease patients. The plasma chitotriosidase enzyme activity and...
Population screening of the c.1448T>C (Leu444Pro) variant. The screening identified two carriers of ...
List of primers used for GBA gene sequencing. The exons and the exon-intron boundaries of the GBA ge...
ClinVar Accession ID of the novel variants generated in the given study. The variants identified thr...
In silico analysis of the functional effect of the variants identified in the adult patients with ty...
Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree o...
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...
Reclassified ClinVar variants based on high MAF in the SHGP database despite low MAF in public datab...
[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...
[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...
Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45)...
ClinVar Accession ID of the variants generated in the given study. The variants identified through S...
In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...
Biochemical analysis of the Gaucher Disease patients. The plasma chitotriosidase enzyme activity and...
Population screening of the c.1448T>C (Leu444Pro) variant. The screening identified two carriers of ...
List of primers used for GBA gene sequencing. The exons and the exon-intron boundaries of the GBA ge...
ClinVar Accession ID of the novel variants generated in the given study. The variants identified thr...
In silico analysis of the functional effect of the variants identified in the adult patients with ty...
Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree o...
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...
Reclassified ClinVar variants based on high MAF in the SHGP database despite low MAF in public datab...
[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...
[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...
Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45)...