Varaico: Literature-Extracted Genetic Variants

Gene:GALM
Variant:p.I196T
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GALM

NM_138801.3:p.I196T

Associated Papers

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Mikami-Saito Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

Chen HA et al.

Molecular Genetics and Metabolism Reports, 2024

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.

Iwasawa S et al.

Molecular Genetics and Metabolism, 2019

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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."