Associated Papers
Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.
Chen Y et al.
Frontiers in Medicine, 2022
36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints
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
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
Zhou L et al.
Experimental Eye Research, 2018
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Velez G et al.
Cold Spring Harbor Molecular Case Studies, 2018
29472286 (PubMed )
Supplement: supp_mcs.a002519_Supplemental_Material.docx
Select a paper to view details