Associated Papers
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage2-Class4-5_variants
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
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B et al.
Nature Genetics, 2009
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