Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.M178R
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GALT

NM_000155.4:p.M178R

Associated Papers

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Kalay I et al.

Annals of Human Genetics, 2023

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.

Canson DM et al.

Jimd Reports, 2019

Mutational analysis of the GALT gene in Filipino patients.

Estrada SC et al.

The Kobe Journal of Medical Sciences, 2013

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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."