Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutations
- Journal Name, Publication year
- Scientific reports, 2020
- 링크
- https://www.nature.com/articles/s41598-020-75902-z
- Paper Title
- Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
- Journal Name, Publication year
- Diagnostics, 2020
- 링크
- https://www.mdpi.com/2075-4418/10/10/821
- Paper Title
- A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features
- Journal Name, Publication year
- Annals of Clinical & Laboratory Science, 2020
- 링크
- http://www.annclinlabsci.org/content/50/5/687.abstract
- Paper Title
- Clinical and molecular spectra of BRAF-associated RASopathy
- Journal Name, Publication year
- Journal of human genetics, 2020
- 링크
- https://www.nature.com/articles/s10038-020-00852-3
- Paper Title
- Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
- Journal Name, Publication year
- Clinical genetics, 2020
- 링크
- https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13848
