https://pubmed.ncbi.nlm.nih.gov/21478907/
SWI/SNF (SWItch/sucrose non-fermentable) complexes are ATP-dependent chromatin remodeling enzymes critically involved in the regulation of multiple functions,...
promoter sequencetwonovelbrminsertion
https://www.mdpi.com/2076-393X/10/12/2021
Glycosylation of proteins is a post-translational process where oligosaccharides are attached to proteins, potentially altering their folding, epitope...
potentialnovelglycosylationpatternsassociated
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.852429/full
Background: CHARGE syndrome (CS) is a single-gene genetic disorder with multiple organ malformations caused by a variant of the Chromodomain helicase DNA-bin...
novel variantsfrontiersdiscoverygene
https://pubmed.ncbi.nlm.nih.gov/22875483/
The dopaminergic system plays an important role in migraine and its clinical subtypes. Hypersensitization of dopamine receptor type 2 (DRD2) in migraine led to...
identificationnoveldopaminergic
https://pubmed.ncbi.nlm.nih.gov/31449985/
Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency....
novelmissensevariantsidentifiedindividuals
https://pubmed.ncbi.nlm.nih.gov/40225937/
Pyruvate dehydrogenase complex deficiency (PDCD) is a defect of aerobic carbohydrate metabolism that causes neurological disorders with varying degrees of...
novelsynonymousdeepintronicvariants