Rare1 Rare disease - Reference data : ClinVar https://www.ncbi.nlm.nih.gov/clinvar/ - Guideline : 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, https://www.nature.com/articles/gim201530 : 2021 Exome and genome sequencing for pediatric patients with cong.. 2021. 6. 25. 이전 1 다음