Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.L181*
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SUMF1

NM_182760.4:p.L181*

Associated Papers

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Laugwitz L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

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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."