https://pubmed.ncbi.nlm.nih.gov/25054547/
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have...
point mutationcharacterizationnovelbchesilent
https://www.cancer.gov/publications/dictionaries/cancer-terms/def/allele
NCI's Dictionary of Cancer Terms provides easy-to-understand definitions for words and phrases related to cancer and medicine.
definitionallelencidictionarycancer
https://pubmed.ncbi.nlm.nih.gov/16216714/
In this study we present two new pentaplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-penta-1 comprises DXS9898, DXS6807,...
developmenttwosystemsxchromosomal
https://www.semanticscholar.org/topic/SOCS2-wt-Allele/2944684
Human SOCS2 wild-type allele is located within 12q and is approximately 14 kb in length. This allele, which encodes suppressor of cytokine signaling 2 protein,...
semantic scholarwtallele
https://www.semanticscholar.org/topic/XCR1-wt-Allele/3182442
Human XCR1 wild-type allele is located in the vicinity of 3p21.3 and is approximately 7 kb in length. This allele, which encodes chemokine XC receptor 1...
semantic scholarwtallele
https://pubmed.ncbi.nlm.nih.gov/19828706/
Children and adolescents with 1 or 2 FTO rs9939609 obesity-risk alleles report more frequent LOC eating episodes and select foods higher in fat at a buffet...
fto geneobesityriskalleleloss
https://pubmed.ncbi.nlm.nih.gov/10509016/
In this study we demonstrate that ade9 plays an indirect role in purine biosynthesis as a non-functional allele of SER1 in Saccharomyces cerevisiae. The SER1...
alleleplaysindirect
https://www.semanticscholar.org/topic/CCDC170-wt-Allele/2094932
Human CCDC170 wild-type allele is located in the vicinity of 6q25.1 and is approximately 127 kb in length. This allele, which encodes coiled-coil...
semantic scholarwtallele
https://pubmed.ncbi.nlm.nih.gov/20403199/
Both Sequenom and Illumina assays were sensitive enough to study imprinting and strong allelic bias. Previous bioinformatics approaches were not predictive of...
imprinted geneshighthroughputanalysiscandidate
https://peerj.com/articles/4134/reviews/
View the review history for The pht4;1-3 mutant line contains a loss of function allele in the Fatty Acid Desaturase 7 gene caused by a remnant inactivated...
reviewhistorymutantlinecontains
https://www.semanticscholar.org/topic/PPAT-wt-Allele/1488679
Human PPAT wild-type allele is located within 4q12 and is approximately 42 kb in length. This allele, which encodes amidophosphoribosyltransferase protein, is...
semantic scholarppatwtallele
https://www.semanticscholar.org/topic/PPP2CA-wt-Allele/10778214
Human PPP2CA wild-type allele is located in the vicinity of 5q31.1 and is approximately 30 kb in length. This allele, which encodes serine/threonine-protein...
semantic scholarwtallele
https://www.semanticscholar.org/topic/GPER-wt-Allele/467941
Human GPER1 wild-type allele is located in the vicinity of 7p22.3 and is approximately 12 kb in length. This allele, which encodes G-protein coupled estrogen...
semantic scholargperwtallele
https://www.semanticscholar.org/topic/ALKBH7-wt-Allele/10895089
Human ALKBH7 wild-type allele is located in the vicinity of 19p13.3 and is approximately 3 kb in length. This allele, which encodes...
semantic scholarwtallele
https://pubmed.ncbi.nlm.nih.gov/7534039/
To explore the relationship between abnormal keratin molecules, 10-nm intermediate filament (IF) organization, and epidermal fragility and blistering, we...
epidermolysis bullosa simplexkeratinmutationfully
https://alleletech.in/
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alleletech
https://www.semanticscholar.org/topic/TNF-wt-Allele/175536
Human TNF wild-type allele is located in the vicinity of 6p21.3 and is approximately 3 kb in length. This allele, which encodes tumor necrosis factor protein,...
semantic scholartnfwtallele
https://pubmed.ncbi.nlm.nih.gov/35817982/
Mapping chromatin loops from noisy Hi-C heatmaps remains a major challenge. Here we present DeepLoop, which performs rigorous bias correction followed by...
mapschromatininteractionssparseallele
https://pubmed.ncbi.nlm.nih.gov/27698409/
Genetic variation in nicotinic receptor alpha 5 (CHRNA5) has been associated with increased risk of addiction-associated phenotypes in humans yet little is...
increasednicotineresponseipscderived