Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.G1802Splc
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CHD7

NM_017780.4:p.G1802Splc

Associated Papers

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia.

Patil R et al.

The Journal of Allergy and Clinical Immunology. Global, 2025

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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."