Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs
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DOI: 10.1016/j.neuropharm.2021.108805
Abstract: Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently become apparent, with many hundreds of de novo variants identified through widely available clinical genetic testing. Individuals with GRIN variants present with neurological conditions such as… read more here.
Keywords: variation; therapeutic significance; clinical therapeutic; significance genetic ... See more keywords
Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine
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DOI: 10.1038/s41598-021-00169-x
Abstract: Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to… read more here.
Keywords: medicine; modifiers hemoglobinopathies; genetic modifiers; leading towards ... See more keywords