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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AXIN1

Variant:p.V835insFs

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AXIN1

NM_003502.4:p.V835insFs

hg38:chr16:288207 A>AC

Associated Papers

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Terhal P et al.

American Journal of Human Genetics, 2023

37582359 (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."