Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.E571insFs
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CTNNB1

NM_001904.4:p.E571insFs

Associated Papers

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Sinibaldi L et al.

Clinical Genetics, 2023

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM7_ESM.xlsx › SuppData6.Sanger_confirmations

Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.

Guilford P et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2010

CDH1 germline mutation in hereditary gastric carcinoma.

Wang HD et al.

World Journal of Gastroenterology, 2004

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

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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."