Varaico: Literature-Extracted Genetic Variants

Gene:CDH17
Variant:p.E370*
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CDH17

NM_004063.4:p.E370*

Associated Papers

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

Sanches JM et al.

European Journal of Human Genetics : Ejhg, 2015

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

Vogelaar IP et al.

Human Molecular Genetics, 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."