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. 2023 Jun 14;14:1166076. doi: 10.3389/fendo.2023.1166076

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Copyright © 2023 Trivellin, Daly, Hernández-Ramírez, Araldi, Tatsi, Dale, Fridell, Mittal, Faucz, Iben, Li, Vitali, Stojilkovic, Kamenicky, Villa, Baussart, Chittiboina, Toro, Gahl, Eugster, Naves, Jaffrain-Rea, de Herder, Neggers, Petrossians, Beckers, Lania, Mains, Eipper and Stratakis

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Gene- and variant-based association analyses for PAM in the UK Biobank (UKBB). (A) Results of the sequence kernel association test (SKAT) analysis of PAM variants for the diagnoses of hyperfunction of the pituitary gland (identified from UKBB fields 41270 and 41204—primary and secondary ICD-10 diagnoses from hospitalization records—and 20002—self-reported diagnosis) in 200,000 UKBB participants. The SKAT CommonRare algorithm was used for analysis. (B) Significant enrichment for PAM pathological missense PAM variants in subjects diagnosed with hyperfunction of the pituitary gland.