Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.T2532fs
Back to variants list

CHD7

NM_017780.4:p.T2532fs

Associated Papers

Craniosynostosis is a feature of CHD7-related CHARGE syndrome.

De Luca C et al.

American Journal of Medical Genetics. Part A, 2021

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E et al.

European Journal of Human Genetics : Ejhg, 2021

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."