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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPHN1

Variant:p.R454K

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OPHN1

NM_002547.3:p.R454K

hg38:chrX:68113240 C>T

Associated Papers

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

Tinker RJ et al.

American Journal of Ophthalmology, 2025

40780579 (PubMed )

Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf

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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."