Associated Papers
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T et al.
Haematologica, 2019
30309848 (PubMed )
Supplement: 2018.194233.SHAHIN_SUPPL.pdf
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.
Jonsson F et al.
Molecular Vision, 2018
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
Select a paper to view details