“Most diagnosed SYNGAP1-Related Disorder (SRD) patients have protein truncating variants (PTV) as opposed to missense variants. Virtually all PTVs are assumed to have the same impact at the molecular ...

New AI algorithm accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome at scale for the first time Currently, only about 30% of rare disease patients ...

A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) has developed an innovative method known as TEVs-TTN, for studying the specific mechanical functions of proteins through their ...

CRISPR activation restores FLNC expression and reverses cardiac electrical abnormalities in mice carrying a truncating variant of the gene • The study was led by researchers at the Centro Nacional de ...