3 Result(s)
within
Linda May
Biomedicine
Human Genetics
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Article
Open AccessFunctional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline
CAG-expanded ATXN7 has been previously defined in the pathogenesis of spinocerebellar ataxia type 7 (SCA7), a polyglutamine expansion autosomal dominant cerebellar ataxia. Pathology in SCA7 occurs as a result of ...
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Article
Open AccessCommon CFTR gene variants influence body composition and survival in rural Ghana
Various studies in mice have found support for the hypothesis that heterozygous carriers of cystic fibrosis transmembrane conductance regulator (CFTR) mutations have an increased resistance to fatal infection com...
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Article
Open AccessGenetic, household and spatial clustering of leprosy on an island in Indonesia: a population-based study
It is generally accepted that genetic factors play a role in susceptibility to both leprosy per se and leprosy type, but only few studies have tempted to quantify this. Estimating the contribution of genetic fact...
