Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.Y209*
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GALT

NM_000155.4:p.Y209*

Associated Papers

[Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene].

Xie Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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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."