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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL18A1

Variant:p.F504_R505del2

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COL18A1

NM_130444.3:p.F504_R505del2

hg38:chr21:45468399 CTTCCGT>C

Associated Papers

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Guberman G et al.

Pediatric Neurology, 2026

41539009 (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."