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Variation on a theme

Identifying sequence variation in disease genes and defining pathogenicity
Authors: Lorraine N, Clark;
Abstract

GIGYF2 (Grb10-interacting GYF protein 2) (TNRC15) was recently identified as the gene responsible for the PARK11 linkage assignment.1 However, recent studies have raised doubt over the evidence for linkage to the PARK11 region and the claim that GIGYF2 is the causal gene. Linkage to chromosome 2q36-37 (PARK11 MIM 607688) has yet to be reported in other Parkinson disease (PD) genome-wide scans, and four studies that included sibpairs and families from Europe, North America, Australia, and Iceland reported negative findings for linkage to this region.2-5 Further, in this issue of Neurology® , Nichols et al.,6 using the PROGENI study, show that in multiplex families linked to chromosome 2q36-37, GIGYF2 at the PARK11 locus does not appear to play a major role as a causative gene or genetic risk factor for familial PD …

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Keywords

Heterozygote, Genotype, Genetic Carrier Screening, DNA Mutational Analysis, Mutation, Missense, Chromosome Mapping, Genetic Variation, Parkinson Disease, Polymorphism, Single Nucleotide, Chromosomes, Human, Pair 2, Mutation, Humans, Genetic Predisposition to Disease, Carrier Proteins

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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average