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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KDR

Variant:p.E565_S566del2

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KDR

NM_002253.4:p.E565_S566del2

hg38:chr4:55104930 ACGCTCT>A

Associated Papers

A novel mutation in KDR is associated with retinal venous beading and cerebral cavernous malformation.

Zhuang X et al.

Genes & Diseases, 2025

40206336 (PubMed )

Supplement: mmc1.docx

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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."