Associated Papers
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Gombosh M et al.
Clinical Genetics, 2023
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Zhang X et al.
Pediatric Rheumatology Online Journal, 2023
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
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