Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.K2530K
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CHD7

NM_017780.4:p.K2530K

Associated Papers

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B

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

Unique phenotype in a patient with CHARGE syndrome.

Jain S et al.

International Journal of Pediatric Endocrinology, 2011

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Bartels CF et al.

Genetic Testing and Molecular Biomarkers, 2010

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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."