Five V, Cardiomyopathy, Not in ClinVar, ALPK3 ALPK3 Variants and Pediatric Cardiomyopathy: Missing Variations and Different Variants in ClinVar Read more
Five V, Developmental Disorders, Not in ClinVar Five Variants in SCN8A Associated with Neurodevelopmental Disorders and Epileptic Encephalopathy Read more
Five V, DOLK, Cardiomyopathy, Glycosylation Disorders Five Substitutions in Dolichol Kinase that Cause Congenital Defects in Glycosylation and Dilated Cardiomyopathy Read more
Five V, Developmental Disorders, Truncating Mutations, MSL2 Five Truncating Germline Mutations in MSL2 in Patients with Neurodevelopmental Disorders Read more
Five V, Genetic Liver Diseases Five TJP2 Germline Variants and Their Role in Cholestasis: Insights from Case Studies Read more
Five V, TP53, Cancer Five germline variants in TP53 that cause early cancer manifestations. Read more