Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.E1780_S1782insFs
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CDH23

NM_022124.6:p.E1780_S1782insFs

Associated Papers

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Said MB et al.

Molecular Genetics & Genomic Medicine, 2022

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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."