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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF319

Variant:p.F267Y

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ZNF319

NM_020807.3:p.F267Y

hg38:chr16:57997466 A>T

Associated Papers

Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy.

Ahmad SR et al.

Journal of Human Genetics, 2025

40820230 (PubMed )

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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."