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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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Query Trace: Neuropsychological Tests and FMR1[original query]
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.
European journal of medical genetics 2022 1 65 (3): 104441.
Mangano Giuseppe Donato, Fontana Antonina, Salpietro Vincenzo, Antona Vincenzo, Mangano Giuseppa Renata, Nardello Rosar
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