Varaico: Literature-Extracted Genetic Variants

Gene:CTNND1
Variant:p.W830*
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CTNND1

NM_001085458.2:p.W830*

Associated Papers

Case report: "Major fetal cardiac pathology associated with a novel CTNND1 mutation".

Zhao X et al.

Frontiers in Pediatrics, 2023

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Alharatani R et al.

Human Molecular Genetics, 2020

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A et al.

European Journal of Human Genetics : Ejhg, 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."