Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.C121_A122delFs
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ZNF408

NM_024741.3:p.C121_A122delFs

Associated Papers

Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.

Nadelmann JB et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2021

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez A et al.

Human Molecular Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."