Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.K229K
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GALT

NM_000155.4:p.K229K

Associated Papers

A case report of classic galactosemia with a GALT gene variant and a literature review.

Wang YC et al.

Bmc Pediatrics, 2024

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].

Yang RL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."