Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.

Norppa AJ, Kauppala TM, Heikkinen HA, Verma B, Iwai H, Frilander MJ
RNA. 2018 Mar;24(3):396-409. doi: 10.1261/rna.062844.117. Epub 2017 Dec 18. PubMed Article

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