Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.R2531insFs
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CHD7

NM_017780.4:p.R2531insFs

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

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants
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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."