Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.S1238delFs
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CDH23

NM_022124.6:p.S1238delFs

Associated Papers

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.

Cristofoli F et al.

Genes, 2023

37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D et al.

Human Mutation, 2008

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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."