Categoría: Articulos
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Genetics of personality may shape more life outcomes than previously thought
An international consortium of researchers found that more than 1,200 different genetic variants are associated with the Big Five personality traits—and, surprisingly, these personality genetics are linked to dozens of life outcomes.
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Genetics of personality may shape more life outcomes than previously thought
An international consortium of researchers found that more than 1,200 different genetic variants are associated with the Big Five personality traits—and, surprisingly, these personality genetics are linked to dozens of life outcomes.
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De novo RYR1 variant c.7108_7109delinsAAGCC (p.Gly2370delinsLysPro) causes life-threatening malignant hyperthermia: reclassification from VUS to pathogenic
Background Methods Results Conclusion …
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Dozens of genes tied to OCD and tic disorders discovered
A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk of obsessive-compulsive disorder (OCD) and chronic tic disorders—providing, two researchers said, the most detailed biological understanding of how thes…
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Dozens of genes tied to OCD and tic disorders discovered
A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk of obsessive-compulsive disorder (OCD) and chronic tic disorders—providing, two researchers said, the most detailed biological understanding of how thes…
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Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models
Glycogen storage disease type VII (GSD-VII), or Tarui disease, is a rare autosomal recessive disorder caused by biallelic loss-of-function variants in the PFKM gene encoding the muscle isoform of phosphofructokinase (PFK), a key enzyme of the glycolyti…
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Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN): integrating epidemiological insights with diagnostic and therapeutic progress
Background Methods Results Conclusions …