Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.Y201N
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CHST3

NM_004273.5:p.Y201N

Associated Papers

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

Mughal TA et al.

Molecular Syndromology, 2024

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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."