Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
- Journal Name, Publication year
- Mol Genet Genomic Med, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2330
- Paper Title
- Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia
- Journal Name, Publication year
- Int J Mol Sci, 2023
- 링크
- https://www.mdpi.com/1422-0067/26/16/7985
- Paper Title
- Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center
- Journal Name, Publication year
- Mol Genet Metab Rep ., 2023
- 링크
- https://linkinghub.elsevier.com/retrieve/pii/S2214-4269(25)00053-9
- Paper Title
- Critical assessment of missense variant effect predictors on disease-relevant variant data
- Journal Name, Publication year
- Hum Genetics, 2023
- 링크
- https://link.springer.com/article/10.1007/s00439-025-02732-2
- Paper Title
- A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom
- Journal Name, Publication year
- Ann Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37589173/
