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Understanding the molecular basis of the high oxygen affinity variant human hemoglobin Coimbra
(Elsevier Science Inc, 2018-01)
Human hemoglobin (Hb) Coimbra (βAsp99Glu) is one of the seven βAsp99 Hb variants described to date. All βAsp99 substitutions result in increased affinity for O2 and decreased heme-heme cooperativity and their carriers are ...
VarQ: A Tool for the Structural and Functional Analysis of Human Protein Variants
(Frontiers Research Foundation, 2018-12)
Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. ...
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
(Springer, 2020-10)
Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS ...
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel
(American Society of Hematology, 2021-01)
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in ...
Genetic Variation in the FAAH Gene and Metabolic Syndrome–related Phenotypes
(Wiley, 2009-11)
We read with great interest the article “Variants in the CNR1 and the FAAH Genes and Adiposity Traits in the Community” by Lieb et al. about a lack of association of common variants of the CNR1 and FAAH genes with surrogate ...
Stativity in the causative alternation? New questions and a new variant
(De Gruyter, 2019-05)
This paper discusses whether capacity to license an internal argument and eventivity are default properties of so-called change-of-state verbs.I draw attention to the claim that, in certain languages, the causative-inchoative ...
Twenty‐One Novel EGFR Kinase Domain variants in Patients with Nonsmall Cell Lung Cancer
(Wiley Blackwell Publishing, Inc, 2015-11)
Somatic sequence variants in the epidermal growth factor receptor (EGFR) kinase domain are associated with sensitivity to tyrosine kinase inhibitors (TKIs) in patients with nonsmall cell lung cancer (NSCLC). Patients ...
Language in behavioral variant frontotemporal dementia: Another stone to be turned in Latin America
(Frontiers Media, 2021-08-10)
Beyond canonical deficits in social cognition and interpersonal conduct, behavioral variant frontotemporal dementia (bvFTD) involves language difficulties in a substantial proportion of cases. However, since most evidence ...
Differential Cognitive and Affective Theory of Mind Abilities at Mild and Moderate Stages of Behavioral Variant Frontotemporal Dementia
(Lippincott Williams, 2015-06)
To study the affective and cognitive components of theory of mind (ToM) performance in patients with behavioral variant frontotemporal dementia (bvFTD), focusing on differential impairment at mild and moderate disease ...
Specific primer sets used to amplify by PCR the hepatitis B virus overlapping S/Pol region select different viral variants
(Wiley Blackwell Publishing, Inc, 2012-10)
PCR detection of viral genomes has provided new insights into viral diagnosis. Nowadays, it is the most frequently used nucleic acid testing (qualitative and quantitative) technique. The aim of this study was to analyse ...