Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q39*
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CHD7

NM_017780.4:p.Q39*

Associated Papers

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Wu J et al.

Bmc Pediatrics, 2025

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

Wang T et al.

Heliyon, 2024

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