Associated Papers
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
29843741 (PubMed )
Supplement: 12967_2018_1522_MOESM1_ESM.xlsx › Sheet1
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
Li N et al.
Experimental and Therapeutic Medicine, 2016
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