Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.R175W
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CDH3

NM_001793.6:p.R175W

Associated Papers

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Carter TC et al.

Journal of Human Genetics, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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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."