Associated Papers
Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.
Kittaka M et al.
Jbmr Plus, 2024
38699440 (PubMed )
Supplement: supplementary_table_1_new_ziae050.xlsx › Supplementary_Table_1
Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.
Mithraprabhu S et al.
International Journal of Molecular Sciences, 2018
29937522 (PubMed )
Supplement: ijms-19-01858-s001.zip › ijms-320037-supp › Supplementary_File_S1.xlsx › EM123_and_EM-S_SNV
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Gariballa N et al.
American Journal of Medical Genetics. Part A, 2017
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