Publications:

Destabilization of mutated human PUS3 protein causes intellectual disability.

Human Mutation

Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S

Publication Date: 2022-09-20

Variant appearance in text: ADA: 579C>A

PubMed Link: 36125428

Variant Present in the following documents:

• HUMU-43-2063-s002.xlsx, sheet 3

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Cyclic AMP-dependent inhibition of human neutrophil oxidative activity by substituted 2-propynylcyclohexyl adenosine A(2A) receptor agonists.

British Journal Of Pharmacology

Sullivan, G W GW; Rieger, J M JM; Scheld, W M WM; Macdonald, T L TL; Linden, J J

Publication Date: 2001-03

Variant appearance in text: ADA: L193=

PubMed Link: 11226132

Variant Present in the following documents:

• Main text

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