Associated Papers
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
The genetic association of the transcription factor NPAT with glycemic response to metformin involves regulation of fuel selection.
Chen C et al.
Plos One, 2021
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Alkhiary YM et al.
Saudi Journal of Biological Sciences, 2016
27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Analysis of 11q22-q23 deletion target genes in B-cell chronic lymphocytic leukaemia: evidence for a pathogenic role of NPAT, CUL5, and PPP2R1B.
Kalla C et al.
European Journal of Cancer (oxford, England : 1990), 2007
Select a paper to view details