Varaico: Literature-Extracted Genetic Variants

Gene:HIC2
Variant:p.G417insFs
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HIC2

NM_015094.3:p.G417insFs

Associated Papers

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad EDH et al.

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

31239556 (PubMed )
Supplement: 41436_2019_585_MOESM2_ESM.xlsx › Tabelle1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."