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. 2018 May 2;103(7):2601–2612. doi: 10.1210/jc.2018-00258

Table 1.

Grouping of MC4R Pathway Variants

Category Gene Source POMC PSCK1 LEPR Total
Group 1 Literature 30 31 22 83
Novel (nonsense, splice site, frameshift) 20 24 39 83
Group 2 Computationally predicted high-impact missense 85 176 160 421
Total 135 231 221 587