Varaico: Literature-Extracted Genetic Variants

Gene:ZNF197
Variant:p.L208F
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ZNF197

NM_006991.5:p.L208F

Associated Papers

Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.

Yuan S et al.

Heliyon, 2024

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease.

Gkalapis N et al.

Eye and Brain, 2024

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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."