Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.Q70*
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CDH2

NM_001792.5:p.Q70*

Associated Papers

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

Rienhoff HY et al.

American Journal of Medical Genetics. Part A, 2013

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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."