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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UXS1

Variant:p.I186T

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UXS1

NM_001253875.2:p.I186T

hg38:chr2:106129694 A>G

Associated Papers

A monoallelic UXS1 variant associated with short-limbed short stature.

Rustad CF et al.

Molecular Genetics & Genomic Medicine, 2024

38860481 (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."