Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.K1598*
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ZNF462

NM_021224.6:p.K1598*

Associated Papers

Novel variants in ZNF462 and phenotype update in patients with Weiss-Kruszka syndrome: a case series.

Huai W et al.

Translational Pediatrics, 2025

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review.

van der Laan L et al.

European Journal of Medical Genetics, 2024

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