GRIN2A-related disorders: genotype and functional consequence predict phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awy304
Abstract: Strehlow et al. describe the largest cohort to date of individuals with GRIN2A-related disorders. The results reveal two phenotypic subgroups associated with different classes of variants affecting distinct domains of the GluN2A protein with different… read more here.
Keywords: genotype functional; functional consequence; disorders genotype; grin2a related ... See more keywords
Functional consequence of the p53 codon 72 polymorphism in colorectal cancer
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DOI: 10.18632/oncotarget.20580
Abstract: Background The codon 72 polymorphism in p53 has been implicated in colorectal cancer (CRC) risk, prognosis and CRC health disparities. We examined the functional consequence of this polymorphism in CRC. Experimental Design Plasmids (pCMV6) that… read more here.
Keywords: functional consequence; codon polymorphism; crc; cancer ... See more keywords