Exemplifying the High Value of CentoMD®
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact
Rare disease research usually focuses on pathogenic genetic variants. The lack of a disease-association for certain types of variants, however, can also be very telling. Pertinent insights into Parkinson’s disease were recently obtained by researchers at CENTOGENE. The resulting study, which built on the company’s well-curated clinical-genetic database CentoMD®, was published in Movement Disorders.