Varaico: Literature-Extracted Genetic Variants

Gene:ZNF335
Variant:p.T885A
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ZNF335

NM_022095.4:p.T885A

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

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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