Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
- Journal Name, Publication year
- Am J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/38118446/
- Paper Title
- Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
- Journal Name, Publication year
- Gene, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37956964/
- Paper Title
- Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
- Journal Name, Publication year
- Am J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37963460/
- Paper Title
- Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
- Journal Name, Publication year
- Clinical Genetics, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37904158/
- Paper Title
- A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems
- Journal Name, Publication year
- Mol Genet Genomic Med, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37877434/