Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Q328*
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GALC

NM_000153.4:p.Q328*

Associated Papers

Screening for Krabbe disease: The first 2 years' experience.

Pannuzzo G et al.

Acta Neurologica Scandinavica, 2019

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Madsen AMH et al.

Jimd Reports, 2019

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