Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
A case report of multiple primary prostate tumors with differential drug sensitivity.
Wilkinson S et al.
Nature Communications, 2020
32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
Kopp ND et al.
Molecular Genetics & Genomic Medicine, 2018
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC et al.
Molecular Medicine Reports, 2014
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Park J et al.
Journal of Clinical Neurology (seoul, Korea), 2013
Select a paper to view details