Associated Papers
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D et al.
Human Genetics, 2018
In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.
Sang P et al.
Journal of Biomolecular Structure & Dynamics, 2017
27677826 (PubMed )
Supplement: supplement_1.zip › Supplementary_file › Supplementary_Information.doc
Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.
Li L et al.
Biomed Research International, 2017
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T et al.
European Journal of Human Genetics : Ejhg, 2014
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B et al.
Nature Genetics, 2009
Select a paper to view details