Sort   by:  
 Page size 
Recent developments in affinity binder or mass spectrometry (MS)-based plasma proteomics are now producing panels of potential biomarker candidates for diagnosis or prognosis. However, clinical validation and implementation of these biomarkers remain limited by the reliance on dated triple quadrupol...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-06-17 | MSV000095051 | MassIVE
These are the vcf files of exome sequencing of the two probands who were found to harbor mutations in KLB. Sample: EGAN00001564799 is the proband 1; Sample: EGAN00001564800 is the proband 11 in the KLB paper. Exome capture was performed using the SureSelect All Exon capture (Agilent Technologies, S...
To test if patients with congenital hypogonadotropic hypogonadism harbor mutations in FGF21 and KLB (encoding the co-receptor of FGF21)
Data Access Committee EGAC00001000690
IRF7 plays a critical role in the production and amplification of the antiviral type I and III interferon response. Autosomal recessive IRF7-deficiency resulted in life-threatening influenza disease in a 3-year-old child. We studied the impact of IRF7-deficiency in non-hematopoietic tissues (fibrobl...
ORGANISM(S): Homo sapiens 
Sort   by:  
 Page size