Associated Papers
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Bujakowska KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27735924 (PubMed )
Supplement: NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
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