Varaico: Literature-Extracted Genetic Variants

Gene:ZNF148
Variant:p.V458fs
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ZNF148

NM_021964.3:p.V458fs

Associated Papers

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Szakszon K et al.

Journal of Medical Genetics, 2024

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