Associated Papers
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Gingras MC et al.
Life Science Alliance, 2021
34301805 (PubMed )
Supplement: LSA-2020-00941_TableS2.xlsx › Table_S2
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
Stäubli A et al.
Human Molecular Genetics, 2017
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Prokudin I et al.
European Journal of Human Genetics : Ejhg, 2014
Select a paper to view details