논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
- Journal Name, Publication year
- Frontiel genetics, 2023
- 링크
- https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1168307/full
- Paper Title
- Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants
- Journal Name, Publication year
- Journal of Allergy and Clinical Immunology, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37211057/
- Paper Title
- The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti
- Journal Name, Publication year
- Diagnostics, 2023
- 링크
- https://www.mdpi.com/2075-4418/13/7/1300
- Paper Title
- Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
- Journal Name, Publication year
- Molecular Neurobiology, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36943625/
- Paper Title
- A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
- Journal Name, Publication year
- Eur J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36797467/
