Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.R598delFs
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XYLT1

NM_022166.4:p.R598delFs

Associated Papers

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Piwar H et al.

International Journal of Molecular Sciences, 2024

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

Guo L et al.

Journal of Human Genetics, 2017

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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."