Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...
Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...
Humans have approximately 20,000 human protein-coding genes, and the proteins they express span a concentration range of ~12 logs. Yet only 0.1% of proteins contribute to 99% of the total plasma ...
Breast cancer post-ovarian cancer in germline non-BRCA homologous recombination (HR) gene pathogenic variant carriers. Cox regression analyses of age-related tumor risks between codon 167 MMs, oMMs ...
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