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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Neurofibromatosis 1 and LZTR1[original query]
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
Neurology 2016 Nov .
Smith Miriam J, Bowers Naomi L, Bulman Michael, Gokhale Carolyn, Wallace Andrew J, King Andrew T, Lloyd Simon K L, Rutherford Scott A, Hammerbeck-Ward Charlotte L, Freeman Simon R, Evans D Gare
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
JAMA neurology 2017 8 74 (9): 1123-1129.
Pathmanaban Omar N, Sadler Katherine V, Kamaly-Asl Ian D, King Andrew T, Rutherford Scott A, Hammerbeck-Ward Charlotte, McCabe Martin G, Kilday John-Paul, Beetz Christian, Poplawski Nicola K, Evans D Gareth, Smith Miriam
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Human mutation 2021 7 42 (10): 1187-1207.
Perez-Becerril Cristina, Evans D Gareth, Smith Miriam
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21. GWAS Catalog
Brain : a journal of neurology 2022 12 .
Sadler Katherine V, Bowes John, Rowlands Charlie F, Perez-Becerril Cristina, van der Meer C Mwee, King Andrew T, Rutherford Scott A, Pathmanaban Omar N, Hammerbeck-Ward Charlotte, Lloyd Simon K W, Freeman Simon R, Williams Ricky, Hannan Cathal John, Lewis Daniel, Eyre Steve, Evans D Gareth, Smith Miriam
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