Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.N69insFs
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HP

NM_005143.5:p.N69insFs

Associated Papers

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Sangermano R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30643219 (PubMed )
Supplement: 41436_2018_414_MOESM1_ESM.pdf
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