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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.G1169_R1170del2

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FBN1

NM_000138.5:p.G1169_R1170del2

hg38:chr15:48487153 AACGGCC>A

Associated Papers

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.

Shimizu N et al.

Journal of Human Genetics, 2025

39939800 (PubMed )

Supplement: 10038_2025_1318_MOESM3_ESM.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."