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
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.
Yuan Y et al.
Genetic Testing and Molecular Biomarkers, 2019
Identification and functional analysis of novel THAP1 mutations.
Lohmann K et al.
European Journal of Human Genetics : Ejhg, 2012
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.
Mani RS et al.
European Journal of Human Genetics : Ejhg, 2009
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Notarangelo LD et al.
Human Mutation, 2001
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