Varaico: Literature-Extracted Genetic Variants

Gene:CTNND1
Variant:p.L494fs
Back to variants list

CTNND1

NM_001085458.2:p.L494fs

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

32196547 (PubMed )
Supplement: alharatanisuppltable1_ddaa050.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."