Gerarda Cappuccio to Animals
This is a "connection" page, showing publications Gerarda Cappuccio has written about Animals.
Connection Strength
0.066
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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: 0.012
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 02 23; 14(1):1009.
Score: 0.012
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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: 0.011
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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: 0.010
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 01 07; 108(1):100-114.
Score: 0.010
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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: 0.010