Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Muscular Atrophy and PLS3[original query] |
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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human genetics 2019 Feb . Ruhno Corey, McGovern Vicki L, Avenarius Matthew R, Snyder Pamela J, Prior Thomas W, Nery Flavia C, Muhtaseb Abdurrahman, Roggenbuck Jennifer S, Kissel John T, Sansone Valeria A, Siranosian Jennifer J, Johnstone Alec J, Nwe Pann H, Zhang Ren Z, Swoboda Kathryn J, Burghes Arthur H |
Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy. Neurology. Genetics 2020 2 6 (1): e386. Wadman Renske I, Jansen Marc D, Curial Chantall A D, Groen Ewout J N, Stam Marloes, Wijngaarde Camiel A, Medic Jelena, Sodaar Peter, van Eijk Kristel R, Huibers Manon M H, van Kuik Joyce, Lemmink Henny H, van Rheenen Wouter, Veldink Jan Herman, van den Berg Leonard H, van der Pol W Lu |
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