Varaico: Literature-Extracted Genetic Variants

Gene:ZNF335
Variant:p.R253Q
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ZNF335

NM_022095.4:p.R253Q

Associated Papers

Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene.

Tavasoli AR et al.

Journal of Molecular Neuroscience : Mn, 2022

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.

Caglayan AO et al.

Journal of Neurogenetics, 2021

Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.

Yamoto K et al.

Congenital Anomalies, 0

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