Varaico: Literature-Extracted Genetic Variants

Gene:CTNND1
Variant:p.R461*
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CTNND1

NM_001085458.2:p.R461*

Associated Papers

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Wurfbain LF et al.

Molecular Syndromology, 2023

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

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

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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."