Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Barroso-Gil M et al.
Molecular Genetics & Genomic Medicine, 2021
33486889 (PubMed )
Supplement: MGG3-9-e1603-s001.docx
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P et al.
Clinical Genetics, 2019
Select a paper to view details