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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIF5B

Variant:p.A260_G262delFs

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KIF5B

NM_004521.3:p.A260_G262delFs

hg38:chr10:32035919 TTCCAAGAG>T

Associated Papers

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.

Singh S et al.

European Journal of Human Genetics : Ejhg, 2025

39506047 (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."