penetrantie
frequentie van afwijkende fenotypen indien genotype afwijkend is
Research
22,291 papers- The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.American journal of human genetics · 2023
- A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
- Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation · 2024
- Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.American journal of human genetics · 2022
- Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
via PubMed
Wikidata facts
Article · Nederlands
Penetrantie is een statistisch begrip dat weergeeft hoe vaak het afwijkend fenotype wordt vastgesteld bij individuen met het afwijkend genotype.
Abstract from DBpedia / Wikipedia · CC BY-SA