Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung H, Hyland PL, Pemov A et al.
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Abstract
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Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as modifier genes; however, few genetic modifiers have been identified to date.
112 European ancestry individuals
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