Edward Yang to Mutation
This is a "connection" page, showing publications Edward Yang has written about Mutation.
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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766.
Score: 0.060
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Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nat Genet. 2023 11; 55(11):1920-1928.
Score: 0.022
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015.
Score: 0.022
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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248.
Score: 0.021
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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. Cold Spring Harb Mol Case Stud. 2019 12; 5(6).
Score: 0.017
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32.
Score: 0.013