Associated Papers
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
38310436 (PubMed )
Supplement: aim-26-346-s001.pdf
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Ling C et al.
Bmc Medical Genetics, 2019
30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1
Select a paper to view details