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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Spinal Muscular Atrophy Type 2[original query]
Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease.
Genetic testing and molecular biomarkers 2009 Dec 13 (6): 821-4.
Stavarachi Monica, Toma Mihai, Butoianu Niculina, Gavrila Luci
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.
CNS neuroscience & therapeutics 2024 4 30 (4): e14718.
Mengnan Lu, Xueying Wang, Na Sun, Shaoping Huang, Lin Yang, Dan
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