Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.E2429_S2430del2
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CHD7

NM_017780.4:p.E2429_S2430del2

Associated Papers

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

Yang M et al.

Journal of Korean Medical Science, 2024

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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."