Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.T2052delFs
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CDH23

NM_022124.6:p.T2052delFs

Associated Papers

Atypical and ultra-rare Usher syndrome: a review.

Nolen RM et al.

Ophthalmic Genetics, 2020

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM et al.

American Journal of Human Genetics, 2002

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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."