Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
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DOI: 10.1016/j.ajhg.2017.12.001
Abstract: Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlation; mutations affecting ... See more keywords