Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.L566H
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ZNF408

NM_024741.3:p.L566H

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1

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

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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."