Associated Papers
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Novel Deleterious nsSNPs within MEFV Gene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial Mediterranean Fever: Using Bioinformatics Analysis.
Mustafa MI et al.
Advances in Bioinformatics, 2019
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
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