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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD68

Variant:p.V235fs

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CD68

NM_001251.3:p.V235fs

hg38:chr17:7580726 G>GN

Associated Papers

High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).

Xie N et al.

Orphanet Journal of Rare Diseases, 2021

33516249 (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."