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By performing germline whole-exome sequencing on 814 melanoma patients across three public databases, researchers identified a 3.56% carrier frequency for PKU/HPA-associated pathogenic PAH variants, which was significantly higher than the 1.76% frequency observed in matched healthy populations, representing an approximately 2.02-fold enrichment ( During tumor cell proliferation, Phe is not only a nutrient substrate, but also a key signaling molecule involved in metabolic reprogramming

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Selected Publications Guo, J., Sosa, E., Chitiashvili, T., Nie, X., Roja, ER., Oliver, E., DonnorConnect, Plath, K., Hotaling, JA, Stukenborg, J-B., Clark, AT., Cairns, B (2021) Single-cell analysis of the developing human testis reveals somatic niche cell specification and fetal germline stem cell establishment

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