Gerarda Cappuccio to Mice
This is a "connection" page, showing publications Gerarda Cappuccio has written about Mice.
Connection Strength
0.060
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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders. J Clin Invest. 2024 Jan 16; 134(2).
Score: 0.017
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Sci Adv. 2022 08 19; 8(33):eabo7112.
Score: 0.016
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
Score: 0.014
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
Score: 0.013