Varaico: Literature-Extracted Genetic Variants

Gene:CDH11
Variant:p.K43*
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CDH11

NM_001797.4:p.K43*

Associated Papers

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.

Minatogawa M et al.

American Journal of Medical Genetics. Part A, 2021

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M et al.

American Journal of Medical Genetics. Part A, 2018

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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."