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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. [electronic resource] by
Producer: 20181211 In: American journal of human genetics vol. 102
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. [electronic resource] by
Producer: 20200413 In: Nature communications vol. 11
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