Results 111 to 120 of about 220,441 (262)
Synonymous and non-synonymous single-nucleotide polymorphisms in K13-propeller gene in Cameroon.
, 2019 Synonymous and non-synonymous single-nucleotide polymorphisms in K13-propeller gene in Cameroon.
Carole Else Eboumbou Moukoko (6411722) +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
Molecular Genetics & Genomic Medicine, 2019 Background Pre‐mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence.
Upendra K. Katneni +8 more
doaj +1 more source
Different frequency patterns of synonymous, non-synonymous and nonsense mutations.
, 2018 As expected, in the HIV pol gene, synonymous mutations occurred more frequently than non-synonymous mutations, which occurred more frequently than nonsense mutations, which were not observed at all.
Marion Hartl (5464361) +5 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Frontiers in MicrobiologyIntroductionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causative agent of the global coronavirus disease 2019 (COVID-19) pandemic and continues to drive successive waves of infection through the emergence of novel variants ...
Kyuyoung Lee +18 more
doaj +1 more source
SEMANTIC OPPOSITION IN SYNONYMOUS PARADIGMS
This article discusses the semantic oppositional relationship of synonymous paradigms. Scientific views on this issue in Uzbek and world linguistics are discussed.
Abdullayeva, Dildora
core +1 more source
The non-synonymous and synonymous nucleotide substitutions calculated for each taxa.
, 2016 The non-synonymous and synonymous nucleotide substitutions calculated for each taxa.
Nan Song (118617) +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos +11 more
wiley +1 more source