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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMX1

Variant:p.G78_R84insFs

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HMX1

NM_018942.3:p.G78_R84insFs

hg38:chr4:8871363 A>ACGGGCCCGCGCCTCCCCGC

Associated Papers

Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report.

Eser M et al.

Ophthalmic Genetics, 2026

41735262 (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."