Varaico: Literature-Extracted Genetic Variants

Gene:SSX5
Variant:p.K23_A24Splc
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SSX5

NM_175723.2:p.K23_A24Splc

Associated Papers

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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