Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.G1684Splc
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CHD7

NM_017780.4:p.G1684Splc

Associated Papers

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.

Kim HH et al.

Neonatology, 2020

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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."