Varaico: Literature-Extracted Genetic Variants

Gene:GALM
Variant:p.G86R
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GALM

NM_138801.3:p.G86R

Associated Papers

Rethinking Newborn Screening: A Case of GALM Deficiency.

van Konijnenburg EMMH et al.

International Journal of Neonatal Screening, 2025

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

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