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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZMIZ1

Variant:p.T1038delFs

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ZMIZ1

NM_020338.4:p.T1038delFs

hg38:chr10:79312655 TCA>T

Associated Papers

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.

Javidi E et al.

Ophthalmic Genetics, 2025

39658964 (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."