Associated Papers
Predicting the functional consequences of genetic variants in co-stimulatory ligand B7-1 using in-silico approaches.
Mathur R et al.
Human Immunology, 2021
Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.
Gao LW et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
Scalco FB et al.
American Journal of Medical Genetics. Part A, 2005
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
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