Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C et al.
Journal of Inherited Metabolic Disease, 2022
NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.
Azuma N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein.
Fausther M et al.
Plos One, 2014
NT5E mutations and arterial calcifications.
St Hilaire C et al.
The New England Journal of Medicine, 2011
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